Hereditas(Beijing) ›› 2025, Vol. 47 ›› Issue (11): 1231-1243.doi: 10.16288/j.yczz.25-101
• Research Article • Previous Articles Next Articles
Received:2025-04-11
Revised:2025-06-26
Online:2025-11-20
Published:2025-07-22
Contact:
Hong Shi
E-mail:2805214365@qq.com;shih@kust.edu.cn
Supported by:Run Li, Hong Shi. Function of Bcl-2 gene and its mechanism on body size adaptive evolution in primates[J]. Hereditas(Beijing), 2025, 47(11): 1231-1243.
Table 2
Positively selected sites of the Bcl-2 gene"
| 位置信息 | 氨基酸种类 | Pr (ω> 1) | ω ± SE |
|---|---|---|---|
| 36 | G | 0.558 | 2.687±2.208 |
| 46 | P | 0.620 | 3.073±2.392 |
| 55 | H | 0.898 | 4.278±2.063 |
| 58 | H | 0.998 | 4.697±1.808 |
| 62 | S | 0.670 | 3.262±2.341 |
| 65 | P | 0.896 | 4.267±2.068 |
| 74 | T | 0.782 | 3.800±2.300 |
| 78 | P | 0.553 | 2.690±2.245 |
| 79 | A | 0.531 | 2.588±2.221 |
| 83 | A | 0.629 | 3.215±2.619 |
Table 3
Genetic parameters of Bcl-2 SNP sites in the FIN and ESN populations"
| SNP | 人群 | nSL | Tajima’s D | Pi | Fst | Xp-nSL |
|---|---|---|---|---|---|---|
| rs4941192 | FIN | 0.636705 | 1.24071 | 0.379429 | 0.470176 | -0.142371 |
| ESN | -0.0186909 | -0.838665 | 0.311747 | |||
| rs6567332 | FIN | 0.269086 | -0.440567 | 0.0963954 | 0.532346 | -0.356843 |
| ESN | -0.251376 | 1.79657 | 0.473004 | |||
| rs8084922 | FIN | 0.462339 | 1.73321 | 0.462339 | 0.0156391 | -0.0279568 |
| ESN | -0.499257 | 1.95251 | 0.499257 | |||
| rs6567334 | FIN | 0.523917 | 1.96713 | 0.190586 | 0.329328 | -0.412335 |
| ESN | -0.670456 | 0.118944 | 0.501718 | |||
| rs8096471 | FIN | 0.127239 | 0.348902 | 0.229298 | 0.164199 | -0.402444 |
| ESN | -0.352603 | 1.85017 | 0.482028 |
Supplementary Table 1
Allele frequency distribution of rs4941192 in West African and Western European populations"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_ phase3 | 96 | African Caribbeans in Barbados | aa:30;ag:49;gg:17 | 0.43 |
| 2 | ASW | Homo sapiens | Africa | 1KG_ phase3 | 61 | Americans of African Ancestry in SW USA | aa:16;ag:34;gg:11 | 0.46 |
| 3 | GWD | Homo sapiens | Africa | 1KG_ phase3 | 113 | Gambian in Western Divisions in the Gambia | aa:26;ag:44;gg:43 | 0.58 |
| 4 | ESN | Homo sapiens | Africa | 1KG_ phase3 | 99 | Esan in Nigeria | aa:19;ag:57;gg:23 | 0.52 |
| 5 | LWK | Homo sapiens | Africa | 1KG_ phase3 | 99 | Luhya in Webuye, Kenya | aa:18;ag:55;gg:26 | 0.54 |
| 6 | MSL | Homo sapiens | Africa | 1KG_ phase3 | 85 | Mende in Sierra Leone | aa:11;ag:47;gg:27 | 0.59 |
| 7 | YRI | Homo sapiens | Africa | 1KG_ phase3 | 108 | Yoruba in Ibadan, Nigeria | aa:22;ag:54;gg:32 | 0.55 |
| 8 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | aa:0;ag:0;gg:2 | 1.00 |
| 9 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | aa:0;ag:1;gg:1 | 0.75 |
| 10 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | aa:0;ag:0;gg:2 | 1.00 |
| 11 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | aa:0;ag:0;gg:2 | 1.00 |
| 12 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | aa:2;ag:0;gg:1 | 0.33 |
| 13 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | aa:0;ag:1;gg:1 | 0.75 |
| 14 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | aa:0;ag:1;gg:1 | 0.75 |
| 15 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | aa:1;ag:2;gg:1 | 0.50 |
| 16 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | aa:0;ag:1;gg:1 | 0.75 |
| 17 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | aa:1;ag:0;gg:1 | 0.50 |
| 18 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | aa:0;ag:2;gg:0 | 0.50 |
| 19 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | aa:0;ag:1;gg:2 | 0.83 |
| 20 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | aa:2;ag:0;gg:0 | 0.00 |
| 21 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | aa:0;ag:2;gg:2 | 0.75 |
| 22 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | aa:0;ag:2;gg:0 | 0.50 |
| 23 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | aa:2;ag:0;gg:0 | 0.00 |
| 24 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | aa:1;ag:1;gg:0 | 0.25 |
| 25 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | aa:1;ag:0;gg:0 | 0.00 |
| 26 | Algerian | Homo sapiens | Africa | HuOrigin | 7 | Algerian | aa:4;ag:3;gg:0 | 0.21 |
| 27 | BantuKenya | Homo sapiens | Africa | HuOrigin | 6 | Bantu of Kenya | aa:1;ag:4;gg:1 | 0.50 |
| 28 | BantuSouthAfrica | Homo sapiens | Africa | HuOrigin | 8 | Bantu of South Africa | aa:0;ag:3;gg:5 | 0.81 |
| 29 | BiakaPygmy | Homo sapiens | Africa | HuOrigin | 20 | Biaka Pygmy | aa:1;ag:4;gg:15 | 0.85 |
| 30 | Damara | Homo sapiens | Africa | HuOrigin | 12 | Damara | aa:2;ag:7;gg:3 | 0.54 |
| 31 | Datog | Homo sapiens | Africa | HuOrigin | 3 | Datooga people | aa:3;ag:0;gg:0 | 0.00 |
| 32 | Dinka | Homo sapiens | Africa | HuOrigin | 7 | Dinka | aa:5;ag:0;gg:2 | 0.29 |
| 33 | Egyptians | Homo sapiens | Africa | HuOrigin | 18 | Egyptians | aa:17;ag:1;gg:0 | 0.03 |
| 34 | Esan | Homo sapiens | Africa | HuOrigin | 8 | Esan | aa:1;ag:5;gg:2 | 0.56 |
| 35 | Ethiopian_Jews | Homo sapiens | Africa | HuOrigin | 7 | Ethiopian Jews | aa:1;ag:3;gg:3 | 0.64 |
| 36 | Gambian | Homo sapiens | Africa | HuOrigin | 6 | Gambian | aa:0;ag:4;gg:2 | 0.67 |
| 37 | Gana | Homo sapiens | Africa | HuOrigin | 8 | Gana | aa:0;ag:4;gg:4 | 0.75 |
| 38 | Gui | Homo sapiens | Africa | HuOrigin | 7 | G|ui | aa:0;ag:2;gg:5 | 0.86 |
| 39 | Hadza | Homo sapiens | Africa | HuOrigin | 22 | Hadza people | aa:9;ag:11;gg:2 | 0.34 |
| 40 | Haiom | Homo sapiens | Africa | HuOrigin | 7 | Hai_om | aa:0;ag:5;gg:2 | 0.64 |
| 41 | Himba | Homo sapiens | Africa | HuOrigin | 4 | Himba | aa:3;ag:1;gg:0 | 0.13 |
| 42 | Hoan | Homo sapiens | Africa | HuOrigin | 7 | _\?Amkoe | aa:0;ag:4;gg:3 | 0.71 |
| 43 | Ju_hoan_North | Homo sapiens | Africa | HuOrigin | 22 | Ju\'hoan San of Namibia | aa:2;ag:14;gg:6 | 0.59 |
| 44 | Ju_hoan_South | Homo sapiens | Africa | HuOrigin | 6 | Ju\'hoan San of Botswana | aa:0;ag:5;gg:1 | 0.58 |
| 45 | Kgalagadi | Homo sapiens | Africa | HuOrigin | 5 | The Kgalagadi | aa:1;ag:3;gg:1 | 0.50 |
| 46 | Khomani | Homo sapiens | Africa | HuOrigin | 11 | Khomani San | aa:1;ag:5;gg:5 | 0.68 |
| 47 | Khwe | Homo sapiens | Africa | HuOrigin | 8 | Khwe speakers | aa:0;ag:2;gg:6 | 0.88 |
| 48 | Kikuyu | Homo sapiens | Africa | HuOrigin | 4 | Kikuyu | aa:2;ag:0;gg:2 | 0.50 |
| 49 | Libyan_Jew | Homo sapiens | Africa | HuOrigin | 9 | Libyan Jews | aa:9;ag:0;gg:0 | 0.00 |
| 50 | Luhya | Homo sapiens | Africa | HuOrigin | 8 | Luhya | aa:3;ag:4;gg:1 | 0.38 |
| 51 | Luo | Homo sapiens | Africa | HuOrigin | 8 | Luo | aa:3;ag:4;gg:1 | 0.38 |
| 52 | Mandenka | Homo sapiens | Africa | HuOrigin | 17 | Mandinka people | aa:5;ag:9;gg:3 | 0.44 |
| 53 | Masai | Homo sapiens | Africa | HuOrigin | 12 | Maasai | aa:7;ag:4;gg:1 | 0.25 |
| 54 | MbutiPygmy | Homo sapiens | Africa | HuOrigin | 9 | Mbuti Pygmy | aa:0;ag:5;gg:4 | 0.72 |
| 55 | Mende | Homo sapiens | Africa | HuOrigin | 8 | Mende people | aa:0;ag:7;gg:1 | 0.56 |
| 56 | Moroccan_Jews | Homo sapiens | Africa | HuOrigin | 6 | Moroccan Jews | aa:6;ag:0;gg:0 | 0.00 |
| 57 | Mozabites | Homo sapiens | Africa | HuOrigin | 21 | Mozabite people | aa:16;ag:5;gg:0 | 0.12 |
| 58 | Nama | Homo sapiens | Africa | HuOrigin | 16 | Nama | aa:4;ag:6;gg:6 | 0.56 |
| 59 | Naro | Homo sapiens | Africa | HuOrigin | 8 | Naro speakers | aa:0;ag:2;gg:6 | 0.88 |
| 60 | Oromo | Homo sapiens | Africa | HuOrigin | 4 | Oromo | aa:4;ag:0;gg:0 | 0.00 |
| 61 | Saharawi | Homo sapiens | Africa | HuOrigin | 6 | Saharawi | aa:3;ag:3;gg:0 | 0.25 |
| 62 | Sandawe | Homo sapiens | Africa | HuOrigin | 22 | Sandawe | aa:9;ag:8;gg:5 | 0.41 |
| 63 | Shua | Homo sapiens | Africa | HuOrigin | 9 | Shua speakers | aa:1;ag:1;gg:7 | 0.83 |
| 64 | Somali | Homo sapiens | Africa | HuOrigin | 13 | Somalis | aa:6;ag:4;gg:3 | 0.38 |
| 65 | Taa_East | Homo sapiens | Africa | HuOrigin | 7 | Taa speakers East | aa:1;ag:2;gg:4 | 0.71 |
| 66 | Taa_North | Homo sapiens | Africa | HuOrigin | 9 | Taa speakers North | aa:1;ag:5;gg:3 | 0.61 |
| 67 | Taa_West | Homo sapiens | Africa | HuOrigin | 16 | Taa speakers West | aa:2;ag:8;gg:6 | 0.63 |
| 68 | Tshwa | Homo sapiens | Africa | HuOrigin | 5 | Tshwa | aa:0;ag:3;gg:2 | 0.70 |
| 69 | Tswana | Homo sapiens | Africa | HuOrigin | 5 | Tswana people | aa:1;ag:3;gg:1 | 0.50 |
| 70 | Tunisian | Homo sapiens | Africa | HuOrigin | 8 | Tunisian | aa:5;ag:3;gg:0 | 0.19 |
| 71 | Tunisian_Jew | Homo sapiens | Africa | HuOrigin | 7 | Tunisian Jews | aa:7;ag:0;gg:0 | 0.00 |
| 72 | Wambo | Homo sapiens | Africa | HuOrigin | 5 | Ovambo people | aa:0;ag:3;gg:2 | 0.70 |
| 73 | Xuun | Homo sapiens | Africa | HuOrigin | 13 | !Xuun | aa:1;ag:8;gg:4 | 0.62 |
| 74 | Yoruba | Homo sapiens | Africa | HuOrigin | 70 | Yoruba people | aa:11;ag:33;gg:26 | 0.61 |
| 75 | CHB | Homo sapiens | EastAsia | 1KG_phase3 | 103 | Han Chinese in Beijing, China | aa:83;ag:20;gg:0 | 0.10 |
| 76 | CHS | Homo sapiens | EastAsia | 1KG_phase3 | 105 | Southern Han Chinese | aa:91;ag:13;gg:1 | 0.07 |
| 77 | CDX | Homo sapiens | EastAsia | 1KG_phase3 | 93 | Chinese Dai in Xishuangbanna, China | aa:84;ag:9;gg:0 | 0.05 |
| 78 | JPT | Homo sapiens | EastAsia | 1KG_phase3 | 104 | Japanese in Tokyo, Japan | aa:90;ag:14;gg:0 | 0.07 |
| 79 | KHV | Homo sapiens | EastAsia | 1KG_phase3 | 99 | Kinh in Ho Chi Minh City, Vietnam | aa:85;ag:13;gg:1 | 0.08 |
| 80 | Ami | Homo sapiens | EastAsia | SGDP | 2 | Ami | aa:2;ag:0;gg:0 | 0.00 |
| 81 | Atayal | Homo sapiens | EastAsia | SGDP | 1 | Atayal | aa:1;ag:0;gg:0 | 0.00 |
| 82 | DL | Homo sapiens | EastAsia | AAGC | 178 | Dolan people in China | aa:158;ag:20;gg:0 | 0.06 |
| 83 | HAN | Homo sapiens | EastAsia | AAGC | 90 | Han Chinese in China | aa:78;ag:11;gg:1 | 0.07 |
| 84 | Hui | Homo sapiens | EastAsia | AAGC | 234 | Hui people in China | aa:194;ag:36;gg:4 | 0.09 |
| 85 | KA | Homo sapiens | EastAsia | AAGC | 70 | KA people in China | aa:55;ag:14;gg:1 | 0.11 |
| 86 | KZK | Homo sapiens | EastAsia | AAGC | 28 | Kazak people in China | aa:20;ag:7;gg:1 | 0.16 |
| 87 | LN | Homo sapiens | EastAsia | AAGC | 164 | Lopnur people in China | aa:122;ag:35;gg:7 | 0.15 |
| 88 | SHP | Homo sapiens | EastAsia | AAGC | 5 | Sherpa people in China | aa:4;ag:1;gg:0 | 0.10 |
| 89 | Burmese | Homo sapiens | EastAsia | SGDP | 2 | Burmese | aa:2;ag:0;gg:0 | 0.00 |
| 90 | TBN | Homo sapiens | EastAsia | AAGC | 33 | Tibetan people in China | aa:24;ag:9;gg:0 | 0.14 |
| 91 | Cambodian | Homo sapiens | EastAsia | SGDP | 2 | Cambodian | aa:2;ag:0;gg:0 | 0.00 |
| 92 | TZK | Homo sapiens | EastAsia | AAGC | 26 | Tajiks in China | aa:15;ag:9;gg:2 | 0.25 |
| 93 | UIG | Homo sapiens | EastAsia | AAGC | 92 | Uyghurs in China | aa:78;ag:14;gg:0 | 0.08 |
| 94 | Dai | Homo sapiens | EastAsia | SGDP | 4 | Dai | aa:3;ag:1;gg:0 | 0.13 |
| 95 | Daur | Homo sapiens | EastAsia | SGDP | 1 | Daur | aa:1;ag:0;gg:0 | 0.00 |
| 96 | Han | Homo sapiens | EastAsia | SGDP | 3 | Han | aa:3;ag:0;gg:0 | 0.00 |
| 97 | Hezhen | Homo sapiens | EastAsia | SGDP | 2 | Hezhen | aa:1;ag:1;gg:0 | 0.25 |
| 98 | Japanese | Homo sapiens | EastAsia | SGDP | 3 | Japanese | aa:2;ag:1;gg:0 | 0.17 |
| 99 | Kinh | Homo sapiens | EastAsia | SGDP | 2 | Kinh | aa:2;ag:0;gg:0 | 0.00 |
| 100 | Korean | Homo sapiens | EastAsia | SGDP | 2 | Korean | aa:2;ag:0;gg:0 | 0.00 |
| 101 | Lahu | Homo sapiens | EastAsia | SGDP | 2 | Lahu | aa:2;ag:0;gg:0 | 0.00 |
| 102 | Miao | Homo sapiens | EastAsia | SGDP | 2 | Miao | aa:2;ag:0;gg:0 | 0.00 |
| 103 | Naxi | Homo sapiens | EastAsia | SGDP | 3 | Naxi | aa:2;ag:1;gg:0 | 0.17 |
| 104 | Oroqen | Homo sapiens | EastAsia | SGDP | 2 | Oroqen | aa:2;ag:0;gg:0 | 0.00 |
| 105 | She | Homo sapiens | EastAsia | SGDP | 2 | She | aa:2;ag:0;gg:0 | 0.00 |
| 106 | JPN | Homo sapiens | EastAsia | 3.5KJPN | NaN | Japanese (Iwate; Miyagi; Shiga; Nagasaki) | 0.00 | |
| 107 | Atayal | Homo sapiens | EastAsia | HuOrigin | 9 | Atayal | aa:3;ag:6;gg:0 | 0.33 |
| 108 | Cambodian | Homo sapiens | EastAsia | HuOrigin | 8 | Cambodian | aa:6;ag:2;gg:0 | 0.13 |
| 109 | Dai | Homo sapiens | EastAsia | HuOrigin | 10 | Dai | aa:9;ag:1;gg:0 | 0.05 |
| 110 | Daurs | Homo sapiens | EastAsia | HuOrigin | 9 | Dahur | aa:5;ag:3;gg:1 | 0.28 |
| 111 | Han | Homo sapiens | EastAsia | HuOrigin | 33 | Han | aa:31;ag:2;gg:0 | 0.03 |
| 112 | Han_North | Homo sapiens | EastAsia | HuOrigin | 10 | Han | aa:6;ag:1;gg:3 | 0.35 |
| 113 | Hezhens | Homo sapiens | EastAsia | HuOrigin | 8 | Hezhens | aa:6;ag:2;gg:0 | 0.13 |
| 114 | Japanese | Homo sapiens | EastAsia | HuOrigin | 29 | Japanese | aa:24;ag:5;gg:0 | 0.09 |
| 115 | Kinh | Homo sapiens | EastAsia | HuOrigin | 8 | Kinh people | aa:8;ag:0;gg:0 | 0.00 |
| 116 | Korean | Homo sapiens | EastAsia | HuOrigin | 6 | Koreans | aa:4;ag:2;gg:0 | 0.17 |
| 117 | Lahu | Homo sapiens | EastAsia | HuOrigin | 8 | Lahu | aa:6;ag:2;gg:0 | 0.13 |
| 118 | Miaozu | Homo sapiens | EastAsia | HuOrigin | 10 | Miao people | aa:9;ag:0;gg:1 | 0.10 |
| 119 | Naxi | Homo sapiens | EastAsia | HuOrigin | 9 | Naxi people | aa:5;ag:4;gg:0 | 0.22 |
| 120 | Oroqens | Homo sapiens | EastAsia | HuOrigin | 9 | Oroqen people | aa:9;ag:0;gg:0 | 0.00 |
| 121 | She | Homo sapiens | EastAsia | HuOrigin | 10 | She people | aa:10;ag:0;gg:0 | 0.00 |
| 122 | Thai | Homo sapiens | EastAsia | HuOrigin | 10 | Thai?people | aa:7;ag:0;gg:3 | 0.30 |
| 123 | Tu | Homo sapiens | EastAsia | HuOrigin | 10 | Tu people | aa:9;ag:1;gg:0 | 0.05 |
| 124 | Tujia | Homo sapiens | EastAsia | HuOrigin | 10 | Tujia people | aa:8;ag:1;gg:1 | 0.15 |
| 125 | Xibo | Homo sapiens | EastAsia | HuOrigin | 7 | Xibo people | aa:5;ag:2;gg:0 | 0.14 |
| 126 | Yizu | Homo sapiens | EastAsia | HuOrigin | 10 | Yi people | aa:9;ag:1;gg:0 | 0.05 |
| 127 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:89;ag:10;gg:0 | 0.05 |
| 128 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | aa:97;ag:10;gg:0 | 0.05 |
| 129 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | aa:80;ag:17;gg:2 | 0.11 |
| 130 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | aa:86;ag:5;gg:0 | 0.03 |
| 131 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | aa:101;ag:6;gg:0 | 0.03 |
| 132 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | aa:2;ag:0;gg:0 | 0.00 |
| 133 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | aa:2;ag:0;gg:0 | 0.00 |
| 134 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | aa:1;ag:0;gg:0 | 0.00 |
| 135 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | aa:1;ag:1;gg:0 | 0.25 |
| 136 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | aa:2;ag:0;gg:0 | 0.00 |
| 137 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | aa:2;ag:0;gg:0 | 0.00 |
| 138 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | aa:2;ag:0;gg:0 | 0.00 |
| 139 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | aa:2;ag:0;gg:0 | 0.00 |
| 140 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | aa:1;ag:0;gg:0 | 0.00 |
| 141 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | aa:2;ag:0;gg:0 | 0.00 |
| 142 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | aa:1;ag:0;gg:0 | 0.00 |
| 143 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | aa:1;ag:1;gg:0 | 0.25 |
| 144 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | aa:1;ag:1;gg:0 | 0.25 |
| 145 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | aa:2;ag:0;gg:0 | 0.00 |
| 146 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | aa:3;ag:0;gg:0 | 0.00 |
| 147 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | aa:2;ag:1;gg:0 | 0.17 |
| 148 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | aa:2;ag:0;gg:0 | 0.00 |
| 149 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | aa:2;ag:0;gg:0 | 0.00 |
| 150 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | aa:2;ag:0;gg:0 | 0.00 |
| 151 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | aa:2;ag:0;gg:0 | 0.00 |
| 152 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | aa:2;ag:0;gg:0 | 0.00 |
| 153 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | aa:2;ag:0;gg:0 | 0.00 |
| 154 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | aa:3;ag:0;gg:0 | 0.00 |
| 155 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | aa:2;ag:0;gg:0 | 0.00 |
| 156 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | aa:2;ag:0;gg:0 | 0.00 |
| 157 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | aa:1;ag:0;gg:0 | 0.00 |
| 158 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | aa:2;ag:0;gg:0 | 0.00 |
| 159 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | aa:1;ag:0;gg:0 | 0.00 |
| 160 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | aa:2;ag:0;gg:0 | 0.00 |
| 161 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | aa:2;ag:0;gg:0 | 0.00 |
| 162 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | aa:1;ag:0;gg:0 | 0.00 |
| 163 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | aa:3;ag:0;gg:0 | 0.00 |
| 164 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | aa:2;ag:0;gg:0 | 0.00 |
| 165 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | aa:1;ag:1;gg:0 | 0.25 |
| 166 | Abkhasians | Homo sapiens | WestEurasia | HuOrigin | 9 | Abkhasians | aa:8;ag:1;gg:0 | 0.06 |
| 167 | Adyghe | Homo sapiens | WestEurasia | HuOrigin | 17 | Adyghe | aa:15;ag:2;gg:0 | 0.06 |
| 168 | Albanian | Homo sapiens | WestEurasia | HuOrigin | 6 | Albanian | aa:5;ag:1;gg:0 | 0.08 |
| 169 | Armenians | Homo sapiens | WestEurasia | HuOrigin | 10 | Armenians | aa:10;ag:0;gg:0 | 0.00 |
| 170 | Ashkenazy_Jews | Homo sapiens | WestEurasia | HuOrigin | 7 | Ashkenazic Jews | aa:6;ag:1;gg:0 | 0.07 |
| 171 | Balkars | Homo sapiens | WestEurasia | HuOrigin | 10 | Balkars | aa:6;ag:4;gg:0 | 0.20 |
| 172 | Basque | Homo sapiens | WestEurasia | HuOrigin | 29 | Basques | aa:29;ag:0;gg:0 | 0.00 |
| 173 | BedouinA | Homo sapiens | WestEurasia | HuOrigin | 25 | BedouinA | aa:22;ag:2;gg:1 | 0.08 |
| 174 | BedouinB | Homo sapiens | WestEurasia | HuOrigin | 18 | BedouinB | aa:12;ag:5;gg:1 | 0.19 |
| 175 | Belarusians | Homo sapiens | WestEurasia | HuOrigin | 10 | Belarusians | aa:10;ag:0;gg:0 | 0.00 |
| 176 | Bulgarians | Homo sapiens | WestEurasia | HuOrigin | 10 | Bulgarians | aa:9;ag:1;gg:0 | 0.05 |
| 177 | Canary_Islanders | Homo sapiens | WestEurasia | HuOrigin | 2 | Canary Islanders | aa:2;ag:0;gg:0 | 0.00 |
| 178 | Chechens | Homo sapiens | WestEurasia | HuOrigin | 9 | Chechen | aa:9;ag:0;gg:0 | 0.00 |
| 179 | Chuvashes | Homo sapiens | WestEurasia | HuOrigin | 10 | Chuvashes | aa:8;ag:2;gg:0 | 0.10 |
| 180 | Croatian | Homo sapiens | WestEurasia | HuOrigin | 10 | Croats | aa:10;ag:0;gg:0 | 0.00 |
| 181 | Cypriots | Homo sapiens | WestEurasia | HuOrigin | 8 | Cyprus | aa:8;ag:0;gg:0 | 0.00 |
| 182 | Czech | Homo sapiens | WestEurasia | HuOrigin | 10 | Czechs | aa:10;ag:0;gg:0 | 0.00 |
| 183 | Druze | Homo sapiens | WestEurasia | HuOrigin | 39 | Druze | aa:27;ag:12;gg:0 | 0.15 |
| 184 | English | Homo sapiens | WestEurasia | HuOrigin | 10 | English people | aa:8;ag:2;gg:0 | 0.10 |
| 185 | Estonians | Homo sapiens | WestEurasia | HuOrigin | 10 | Estonians | aa:9;ag:1;gg:0 | 0.05 |
| 186 | Finnish | Homo sapiens | WestEurasia | HuOrigin | 7 | Finnish | aa:6;ag:1;gg:0 | 0.07 |
| 187 | French | Homo sapiens | WestEurasia | HuOrigin | 25 | French | aa:23;ag:2;gg:0 | 0.04 |
| 188 | French_South | Homo sapiens | WestEurasia | HuOrigin | 7 | French South | aa:7;ag:0;gg:0 | 0.00 |
| 189 | Georgian_Jews | Homo sapiens | WestEurasia | HuOrigin | 7 | Georgian Jews | aa:7;ag:0;gg:0 | 0.00 |
| 190 | Georgians | Homo sapiens | WestEurasia | HuOrigin | 10 | Georgians | aa:10;ag:0;gg:0 | 0.00 |
| 191 | Greek | Homo sapiens | WestEurasia | HuOrigin | 20 | Greeks | aa:18;ag:2;gg:0 | 0.05 |
| 192 | Hungarians | Homo sapiens | WestEurasia | HuOrigin | 20 | Hungarians | aa:17;ag:3;gg:0 | 0.08 |
| 193 | Icelandic | Homo sapiens | WestEurasia | HuOrigin | 12 | Icelanders | aa:8;ag:4;gg:0 | 0.17 |
| 194 | Iranian_Jews | Homo sapiens | WestEurasia | HuOrigin | 9 | Iranian Jews | aa:9;ag:0;gg:0 | 0.00 |
| 195 | Iranians | Homo sapiens | WestEurasia | HuOrigin | 8 | Iranian peoples | aa:6;ag:2;gg:0 | 0.13 |
| 196 | Iraqi_Jews | Homo sapiens | WestEurasia | HuOrigin | 6 | Iraqi Jews | aa:6;ag:0;gg:0 | 0.00 |
| 197 | Italian_North | Homo sapiens | WestEurasia | HuOrigin | 12 | Italian of Bergamo | aa:12;ag:0;gg:0 | 0.00 |
| 198 | Italian_South | Homo sapiens | WestEurasia | HuOrigin | 1 | Italian South | aa:1;ag:0;gg:0 | 0.00 |
| 199 | Jordanians | Homo sapiens | WestEurasia | HuOrigin | 9 | Jordanians | aa:8;ag:1;gg:0 | 0.06 |
| 200 | Kumyks | Homo sapiens | WestEurasia | HuOrigin | 8 | Kumyks | aa:6;ag:2;gg:0 | 0.13 |
| 201 | Lebanese | Homo sapiens | WestEurasia | HuOrigin | 8 | Lebanese | aa:7;ag:1;gg:0 | 0.06 |
| 202 | Lezgins | Homo sapiens | WestEurasia | HuOrigin | 9 | Lezgins | aa:8;ag:1;gg:0 | 0.06 |
| 203 | Lithuanians | Homo sapiens | WestEurasia | HuOrigin | 10 | Lithuanians | aa:10;ag:0;gg:0 | 0.00 |
| 204 | Maltese | Homo sapiens | WestEurasia | HuOrigin | 8 | Maltese people | aa:8;ag:0;gg:0 | 0.00 |
| 205 | Mordovians | Homo sapiens | WestEurasia | HuOrigin | 10 | Mordvins | aa:9;ag:0;gg:1 | 0.10 |
| 206 | Nogais | Homo sapiens | WestEurasia | HuOrigin | 9 | Nogais | aa:7;ag:2;gg:0 | 0.11 |
| 207 | NorthOssetians | Homo sapiens | WestEurasia | HuOrigin | 10 | Ossetians North | aa:9;ag:1;gg:0 | 0.05 |
| 208 | Norwegian | Homo sapiens | WestEurasia | HuOrigin | 11 | Norwegians | aa:8;ag:3;gg:0 | 0.14 |
| 209 | Orcadians | Homo sapiens | WestEurasia | HuOrigin | 13 | Orcadians | aa:13;ag:0;gg:0 | 0.00 |
| 210 | Palestinians | Homo sapiens | WestEurasia | HuOrigin | 38 | Palestinians | aa:36;ag:2;gg:0 | 0.03 |
| 211 | Russians_North | Homo sapiens | WestEurasia | HuOrigin | 22 | Russians | aa:22;ag:0;gg:0 | 0.00 |
| 212 | Sardinian | Homo sapiens | WestEurasia | HuOrigin | 27 | Sardinian people | aa:24;ag:3;gg:0 | 0.06 |
| 213 | Saudis | Homo sapiens | WestEurasia | HuOrigin | 8 | Saudis | aa:6;ag:2;gg:0 | 0.13 |
| 214 | Scottish | Homo sapiens | WestEurasia | HuOrigin | 4 | Scottish | aa:4;ag:0;gg:0 | 0.00 |
| 215 | Sicilian | Homo sapiens | WestEurasia | HuOrigin | 11 | Sicilian | aa:10;ag:1;gg:0 | 0.05 |
| 216 | Spanish | Homo sapiens | WestEurasia | HuOrigin | 53 | Spanish | aa:48;ag:5;gg:0 | 0.05 |
| 217 | Spanish_North | Homo sapiens | WestEurasia | HuOrigin | 5 | Spanish North | aa:4;ag:1;gg:0 | 0.10 |
| 218 | Syrians | Homo sapiens | WestEurasia | HuOrigin | 8 | Syrians | aa:8;ag:0;gg:0 | 0.00 |
| 219 | Turkish | Homo sapiens | WestEurasia | HuOrigin | 56 | Turkish people | aa:48;ag:8;gg:0 | 0.07 |
| 220 | Turkish_Jew | Homo sapiens | WestEurasia | HuOrigin | 8 | Turkish Jews | aa:8;ag:0;gg:0 | 0.00 |
| 221 | Tuscany | Homo sapiens | WestEurasia | HuOrigin | 8 | Italian of Tuscany | aa:7;ag:1;gg:0 | 0.06 |
| 222 | Yemenese | Homo sapiens | WestEurasia | HuOrigin | 6 | Yemeni people | aa:6;ag:0;gg:0 | 0.00 |
| 223 | Yemenite_Jews | Homo sapiens | WestEurasia | HuOrigin | 8 | Yemenite Jews | aa:7;ag:1;gg:0 | 0.06 |
| 224 | fin | Homo sapiens | WestEurasia | gnomAD.genomes | 1,737 | Finnish | aa:1430;ag:292;gg:15 | 0.09 |
| 225 | nfe_est | Homo sapiens | WestEurasia | gnomAD.genomes | 2,294 | Estonian | aa:2052;ag:240;gg:2 | 0.05 |
| 226 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD.genomes | 4,298 | North-Western European | aa:3772;ag:506;gg:20 | 0.06 |
| 227 | nfe_onf | Homo sapiens | WestEurasia | gnomAD.genomes | 1,069 | Other non-Finnish European | aa:943;ag:121;gg:5 | 0.06 |
| 228 | nfe_seu | Homo sapiens | WestEurasia | gnomAD.genomes | 53 | Southern European | aa:46;ag:7;gg:0 | 0.07 |
Supplementary Table 2
Allele frequency distribution of rs6567332 in West African and Western European populations"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | cc:19;ct:50;tt:27 | 0.46 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | cc:14;ct:39;tt:8 | 0.55 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | cc:21;ct:56;tt:36 | 0.43 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | cc:16;ct:43;tt:40 | 0.38 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | cc:24;ct:48;tt:27 | 0.48 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | cc:14;ct:47;tt:24 | 0.44 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | cc:16;ct:56;tt:36 | 0.41 |
| 8 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | cc:1;ct:0;tt:1 | 0.50 |
| 9 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | cc:0;ct:0;tt:2 | 0.00 |
| 10 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | cc:0;ct:2;tt:0 | 0.50 |
| 11 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | cc:0;ct:2;tt:0 | 0.50 |
| 12 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | cc:2;ct:1;tt:0 | 0.83 |
| 13 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | cc:0;ct:0;tt:2 | 0.00 |
| 14 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | cc:0;ct:2;tt:0 | 0.50 |
| 15 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | cc:1;ct:3;tt:0 | 0.63 |
| 16 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | cc:0;ct:1;tt:1 | 0.25 |
| 17 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | cc:1;ct:1;tt:0 | 0.75 |
| 18 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | cc:2;ct:0;tt:0 | 1.00 |
| 19 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | cc:0;ct:2;tt:1 | 0.33 |
| 20 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | cc:0;ct:1;tt:1 | 0.25 |
| 21 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | cc:2;ct:2;tt:0 | 0.75 |
| 22 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | cc:0;ct:2;tt:0 | 0.50 |
| 23 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | cc:1;ct:1;tt:0 | 0.75 |
| 24 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | cc:1;ct:1;tt:0 | 0.75 |
| 25 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | cc:0;ct:1;tt:0 | 0.50 |
| 26 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | cc:78;ct:20;tt:1 | 0.89 |
| 27 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | cc:77;ct:28;tt:2 | 0.85 |
| 28 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | cc:89;ct:10;tt:0 | 0.95 |
| 29 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | cc:71;ct:19;tt:1 | 0.88 |
| 30 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | cc:75;ct:30;tt:2 | 0.84 |
| 31 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | cc:1;ct:1;tt:0 | 0.75 |
| 32 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | cc:2;ct:0;tt:0 | 1.00 |
| 33 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | cc:1;ct:0;tt:0 | 1.00 |
| 34 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | cc:2;ct:0;tt:0 | 1.00 |
| 35 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | cc:2;ct:0;tt:0 | 1.00 |
| 36 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | cc:0;ct:2;tt:0 | 0.50 |
| 37 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | cc:2;ct:0;tt:0 | 1.00 |
| 38 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | cc:1;ct:1;tt:0 | 0.75 |
| 39 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | cc:1;ct:0;tt:0 | 1.00 |
| 40 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | cc:0;ct:2;tt:0 | 0.50 |
| 41 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | cc:0;ct:1;tt:0 | 0.50 |
| 42 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | cc:0;ct:2;tt:0 | 0.50 |
| 43 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | cc:2;ct:0;tt:0 | 1.00 |
| 44 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | cc:2;ct:0;tt:0 | 1.00 |
| 45 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | cc:3;ct:0;tt:0 | 1.00 |
| 46 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | cc:3;ct:0;tt:0 | 1.00 |
| 47 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | cc:1;ct:1;tt:0 | 0.75 |
| 48 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | cc:2;ct:0;tt:0 | 1.00 |
| 49 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | cc:1;ct:0;tt:1 | 0.50 |
| 50 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | cc:1;ct:1;tt:0 | 0.75 |
| 51 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | cc:2;ct:0;tt:0 | 1.00 |
| 52 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | cc:0;ct:2;tt:0 | 0.50 |
| 53 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | cc:0;ct:3;tt:0 | 0.50 |
| 54 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | cc:1;ct:1;tt:0 | 0.75 |
| 55 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | cc:2;ct:0;tt:0 | 1.00 |
| 56 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | cc:1;ct:0;tt:0 | 1.00 |
| 57 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | cc:2;ct:0;tt:0 | 1.00 |
| 58 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | cc:1;ct:0;tt:0 | 1.00 |
| 59 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | cc:1;ct:1;tt:0 | 0.75 |
| 60 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | cc:2;ct:0;tt:0 | 1.00 |
| 61 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | cc:0;ct:0;tt:1 | 0.00 |
| 62 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | cc:2;ct:1;tt:0 | 0.83 |
| 63 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | cc:1;ct:0;tt:1 | 0.50 |
| 64 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | cc:1;ct:1;tt:0 | 0.75 |
| 65 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,734 | Finnish | cc:1415;ct:295;tt:24 | 0.90 |
| 66 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,284 | Estonian | cc:1840;ct:414;tt:30 | 0.90 |
| 67 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,292 | North-Western European | cc:3130;ct:1076;tt:86 | 0.85 |
| 68 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,068 | Other non-Finnish European | cc:783;ct:261;tt:24 | 0.86 |
| 69 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 52 | Southern European | cc:40;ct:9;tt:3 | 0.86 |
Supplementary Table 3
Allele frequency distribution of rs8084922 in West African and Western European populations"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | cc:14;cg:55;gg:27 | 0.43 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | cc:16;cg:31;gg:14 | 0.52 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | cc:23;cg:53;gg:37 | 0.44 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | cc:24;cg:43;gg:32 | 0.46 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | cc:33;cg:51;gg:15 | 0.59 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | cc:27;cg:41;gg:17 | 0.56 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | cc:26;cg:45;gg:37 | 0.45 |
| 8 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | cc:2;cg:0;gg:0 | 1.00 |
| 9 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | cc:1;cg:1;gg:0 | 0.75 |
| 10 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | cc:0;cg:2;gg:0 | 0.50 |
| 11 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | cc:1;cg:1;gg:0 | 0.75 |
| 12 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | cc:1;cg:1;gg:1 | 0.50 |
| 13 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | cc:0;cg:1;gg:1 | 0.25 |
| 14 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | cc:1;cg:0;gg:1 | 0.50 |
| 15 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | cc:4;cg:0;gg:0 | 1.00 |
| 16 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | cc:2;cg:0;gg:0 | 1.00 |
| 17 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | cc:1;cg:0;gg:1 | 0.50 |
| 18 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | cc:1;cg:1;gg:0 | 0.75 |
| 19 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | cc:1;cg:2;gg:0 | 0.67 |
| 20 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | cc:1;cg:0;gg:1 | 0.50 |
| 21 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | cc:3;cg:1;gg:0 | 0.88 |
| 22 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | cc:0;cg:1;gg:1 | 0.25 |
| 23 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | cc:0;cg:0;gg:2 | 0.00 |
| 24 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | cc:1;cg:0;gg:1 | 0.50 |
| 25 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | cc:0;cg:1;gg:0 | 0.50 |
| 26 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | cc:22;cg:58;gg:19 | 0.52 |
| 27 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | cc:28;cg:53;gg:26 | 0.51 |
| 28 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | cc:12;cg:47;gg:40 | 0.36 |
| 29 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | cc:15;cg:54;gg:22 | 0.46 |
| 30 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | cc:24;cg:52;gg:31 | 0.47 |
| 31 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | cc:0;cg:2;gg:0 | 0.50 |
| 32 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | cc:1;cg:0;gg:1 | 0.50 |
| 33 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | cc:1;cg:0;gg:0 | 1.00 |
| 34 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | cc:1;cg:1;gg:0 | 0.75 |
| 35 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | cc:2;cg:0;gg:0 | 1.00 |
| 36 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | cc:1;cg:0;gg:1 | 0.50 |
| 37 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | cc:0;cg:0;gg:2 | 0.00 |
| 38 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | cc:1;cg:1;gg:0 | 0.75 |
| 39 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | cc:0;cg:0;gg:1 | 0.00 |
| 40 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | cc:0;cg:2;gg:0 | 0.50 |
| 41 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | cc:0;cg:1;gg:0 | 0.50 |
| 42 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | cc:0;cg:1;gg:1 | 0.25 |
| 43 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | cc:0;cg:0;gg:2 | 0.00 |
| 44 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | cc:0;cg:1;gg:1 | 0.25 |
| 45 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | cc:2;cg:1;gg:0 | 0.83 |
| 46 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | cc:1;cg:1;gg:1 | 0.50 |
| 47 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | cc:1;cg:1;gg:0 | 0.75 |
| 48 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | cc:0;cg:1;gg:1 | 0.25 |
| 49 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | cc:1;cg:0;gg:1 | 0.50 |
| 50 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | cc:0;cg:0;gg:2 | 0.00 |
| 51 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | cc:0;cg:2;gg:0 | 0.50 |
| 52 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | cc:0;cg:2;gg:0 | 0.50 |
| 53 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | cc:0;cg:3;gg:0 | 0.50 |
| 54 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | cc:0;cg:2;gg:0 | 0.50 |
| 55 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | cc:1;cg:0;gg:1 | 0.50 |
| 56 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | cc:0;cg:1;gg:0 | 0.50 |
| 57 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | cc:1;cg:1;gg:0 | 0.75 |
| 58 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | cc:0;cg:1;gg:0 | 0.50 |
| 59 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | cc:1;cg:1;gg:0 | 0.75 |
| 60 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | cc:0;cg:2;gg:0 | 0.50 |
| 61 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | cc:0;cg:0;gg:1 | 0.00 |
| 62 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | cc:0;cg:3;gg:0 | 0.50 |
| 63 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | cc:0;cg:0;gg:2 | 0.00 |
| 64 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | cc:0;cg:0;gg:2 | 0.00 |
| 65 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,734 | Finnish | cc:265;cg:787;gg: 682 | 0.38 |
| 66 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,285 | Estonian | cc:505;cg:1129;gg:651 | 0.47 |
| 67 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,286 | North-Western European | cc:925;cg:2193;gg:1168 | 0.47 |
| 68 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,067 | Other non-Finnish European | cc:248;cg:538;gg:281 | 0.48 |
| 69 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 53 | Southern European | cc:12;cg:29;gg:12 | 0.50 |
Supplementary Table 4
Allele frequency distribution of rs6567334 in West African and Western European populations"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | aa:41;ac:44;cc:11 | 0.34 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | aa:19;ac:36;cc:6 | 0.39 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | aa:54;ac:52;cc:7 | 0.29 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | aa:65;ac:30;cc:4 | 0.19 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | aa:43;ac:44;cc:12 | 0.34 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | aa:43;ac:38;cc:4 | 0.27 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | aa:52;ac:47;cc:9 | 0.30 |
| 8 | ASW | Homo sapiens | Africa | HapMap | 87 | Americans of African Ancestry in SW USA | aa:29;ac:45;cc:13 | 0.41 |
| 9 | LWK | Homo sapiens | Africa | HapMap | 110 | Luhya in Webuye, Kenya | aa:43;ac:55;cc:12 | 0.36 |
| 10 | MKK | Homo sapiens | Africa | HapMap | 182 | Maasai in Kinyawa,  Kenya | aa:37;ac:97;cc:48 | 0.53 |
| 11 | YRI | Homo sapiens | Africa | HapMap | 201 | Yoruba in Ibadan, Nigeria | aa:102;ac:81;cc:18 | 0.29 |
| 12 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | aa:2;ac:0;cc:0 | 0.00 |
| 13 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | aa:2;ac:0;cc:0 | 0.00 |
| 14 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | aa:1;ac:1;cc:0 | 0.25 |
| 15 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | aa:1;ac:1;cc:0 | 0.25 |
| 16 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | aa:1;ac:0;cc:2 | 0.67 |
| 17 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | aa:2;ac:0;cc:0 | 0.00 |
| 18 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | aa:0;ac:2;cc:0 | 0.50 |
| 19 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | aa:0;ac:3;cc:1 | 0.63 |
| 20 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | aa:1;ac:1;cc:0 | 0.25 |
| 21 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | aa:0;ac:2;cc:0 | 0.50 |
| 22 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | aa:0;ac:1;cc:1 | 0.75 |
| 23 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | aa:1;ac:2;cc:0 | 0.33 |
| 24 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | aa:1;ac:1;cc:0 | 0.25 |
| 25 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | aa:1;ac:2;cc:1 | 0.50 |
| 26 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | aa:1;ac:1;cc:0 | 0.25 |
| 27 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | aa:1;ac:0;cc:1 | 0.50 |
| 28 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | aa:0;ac:1;cc:1 | 0.75 |
| 29 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | aa:0;ac:1;cc:0 | 0.50 |
| 30 | Algeria | Homo sapiens | Africa | NegPyg | 19 | Algeria | aa:5;ac:8;cc:6 | 0.53 |
| 31 | Egypt | Homo sapiens | Africa | NegPyg | 19 | Egypt | aa:1;ac:12;cc:6 | 0.63 |
| 32 | Libya | Homo sapiens | Africa | NegPyg | 17 | Libya | aa:3;ac:7;cc:7 | 0.62 |
| 33 | MoroccoN | Homo sapiens | Africa | NegPyg | 18 | MoroccoN | aa:5;ac:5;cc:8 | 0.58 |
| 34 | MoroccoS | Homo sapiens | Africa | NegPyg | 16 | MoroccoS | aa:1;ac:8;cc:7 | 0.69 |
| 35 | SaharaOCC | Homo sapiens | Africa | NegPyg | 18 | SaharaOCC | aa:2;ac:10;cc:6 | 0.61 |
| 36 | ColouredColesberg | Homo sapiens | Africa | NegPyg | 20 | ColouredColesberg | aa:7;ac:7;cc:6 | 0.48 |
| 37 | ColouredWellington | Homo sapiens | Africa | NegPyg | 20 | ColouredWellington | aa:5;ac:10;cc:5 | 0.50 |
| 38 | GuiGhanaKgal | Homo sapiens | Africa | NegPyg | 12 | GuiGhanaKgal | aa:6;ac:4;cc:2 | 0.33 |
| 39 | Juhoansi | Homo sapiens | Africa | NegPyg | 17 | Juhoansi | aa:2;ac:6;cc:9 | 0.71 |
| 40 | Karretjie | Homo sapiens | Africa | NegPyg | 19 | Karretjie | aa:10;ac:8;cc:1 | 0.26 |
| 41 | Khomani | Homo sapiens | Africa | NegPyg | 39 | Khomani | aa:15;ac:16;cc:8 | 0.41 |
| 42 | Khwe | Homo sapiens | Africa | NegPyg | 16 | Khwe | aa:10;ac:3;cc:3 | 0.28 |
| 43 | Nama | Homo sapiens | Africa | NegPyg | 20 | Nama | aa:7;ac:12;cc:1 | 0.35 |
| 44 | SEBantu | Homo sapiens | Africa | NegPyg | 20 | SEBantu | aa:11;ac:8;cc:1 | 0.25 |
| 45 | SWBantu | Homo sapiens | Africa | NegPyg | 12 | SWBantu | aa:6;ac:6;cc:0 | 0.25 |
| 46 | XunD | Homo sapiens | Africa | NegPyg | 19 | XunD | aa:3;ac:10;cc:6 | 0.58 |
| 47 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:6;ac:23;cc:70 | 0.82 |
| 48 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | aa:8;ac:38;cc:61 | 0.75 |
| 49 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | aa:8;ac:34;cc:57 | 0.75 |
| 50 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | aa:4;ac:28;cc:59 | 0.80 |
| 51 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | aa:7;ac:38;cc:62 | 0.76 |
| 52 | CEU | Homo sapiens | WestEurasia | HapMap | 164 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:9;ac:43;cc:112 | 0.81 |
| 53 | TSI | Homo sapiens | WestEurasia | HapMap | 101 | Toscani in Italia | aa:7;ac:40;cc:54 | 0.73 |
| 54 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | aa:0;ac:1;cc:1 | 0.75 |
| 55 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | aa:0;ac:0;cc:2 | 1.00 |
| 56 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | aa:0;ac:1;cc:0 | 0.50 |
| 57 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | aa:0;ac:1;cc:1 | 0.75 |
| 58 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | aa:0;ac:0;cc:2 | 1.00 |
| 59 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | aa:0;ac:2;cc:0 | 0.50 |
| 60 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | aa:0;ac:0;cc:2 | 1.00 |
| 61 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | aa:1;ac:0;cc:1 | 0.50 |
| 62 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | aa:0;ac:0;cc:1 | 1.00 |
| 63 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | aa:0;ac:2;cc:0 | 0.50 |
| 64 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | aa:0;ac:1;cc:0 | 0.50 |
| 65 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | aa:0;ac:2;cc:0 | 0.50 |
| 66 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | aa:0;ac:1;cc:1 | 0.75 |
| 67 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | aa:0;ac:0;cc:2 | 1.00 |
| 68 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | aa:0;ac:1;cc:2 | 0.83 |
| 69 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | aa:0;ac:1;cc:2 | 0.83 |
| 70 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | aa:1;ac:0;cc:1 | 0.50 |
| 71 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | aa:0;ac:1;cc:1 | 0.75 |
| 72 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | aa:1;ac:0;cc:1 | 0.50 |
| 73 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | aa:1;ac:0;cc:1 | 0.50 |
| 74 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | aa:0;ac:0;cc:2 | 1.00 |
| 75 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | aa:0;ac:2;cc:0 | 0.50 |
| 76 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | aa:1;ac:2;cc:0 | 0.33 |
| 77 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | aa:0;ac:1;cc:1 | 0.75 |
| 78 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | aa:0;ac:0;cc:2 | 1.00 |
| 79 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | aa:0;ac:0;cc:1 | 1.00 |
| 80 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | aa:0;ac:0;cc:2 | 1.00 |
| 81 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | aa:0;ac:0;cc:1 | 1.00 |
| 82 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | aa:0;ac:1;cc:1 | 0.75 |
| 83 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | aa:0;ac:1;cc:1 | 0.75 |
| 84 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | aa:1;ac:0;cc:0 | 0.00 |
| 85 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | aa:0;ac:2;cc:1 | 0.67 |
| 86 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | aa:1;ac:1;cc:0 | 0.25 |
| 87 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | aa:1;ac:0;cc:1 | 0.50 |
| 88 | CanaryIslands | Homo sapiens | WestEurasia | NegPyg | 17 | CanaryIslands | aa:2;ac:9;cc:6 | 0.62 |
| 89 | SpainBASC | Homo sapiens | WestEurasia | NegPyg | 20 | SpainBASC | aa:1;ac:5;cc:14 | 0.83 |
| 90 | SpainNW | Homo sapiens | WestEurasia | NegPyg | 17 | SpainNW | aa:3;ac:6;cc:8 | 0.65 |
| 91 | SpainS | Homo sapiens | WestEurasia | NegPyg | 17 | SpainS | aa:1;ac:8;cc:8 | 0.71 |
| 92 | Tunisia | Homo sapiens | WestEurasia | NegPyg | 18 | Tunisia | aa:1;ac:6;cc:11 | 0.78 |
| 93 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,737 | Finnish | aa:136;ac:642;cc: 959 | 0.74 |
| 94 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,292 | Estonian | aa:101;ac:755;cc: 1436 | 0.79 |
| 95 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,293 | North-Western European | aa:226;ac:1521;cc:2546 | 0.77 |
| 96 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,069 | Other non-Finnish European | aa:67;ac:403;cc:599 | 0.75 |
| 97 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 53 | Southern European | aa:5;ac:21;cc:27 | 0.71 |
Supplementary Table 5
Allele frequency distribution of rs8096471 in West African and Western European populations"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | aa:15;ag:48;gg:33 | 0.59 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | aa:5;ag:26;gg:30 | 0.70 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | aa:27;ag:64;gg:22 | 0.48 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | aa:15;ag:49;gg:35 | 0.60 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | aa:20;ag:50;gg:29 | 0.55 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | aa:26;ag:45;gg:14 | 0.43 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | aa:22;ag:53;gg:33 | 0.55 |
| 8 | ASW | Homo sapiens | Africa | HapMap | 87 | Americans of African Ancestry in SW USA | aa:12;ag:38;gg:37 | 0.64 |
| 9 | LWK | Homo sapiens | Africa | HapMap | 109 | Luhya in Webuye, Kenya | aa:20;ag:52;gg:37 | 0.58 |
| 10 | MKK | Homo sapiens | Africa | HapMap | 183 | Maasai in Kinyawa,  Kenya | aa:33;ag:91;gg:59 | 0.57 |
| 11 | YRI | Homo sapiens | Africa | HapMap | 199 | Yoruba in Ibadan, Nigeria | aa:41;ag:97;gg:61 | 0.55 |
| 12 | BantuKenya | Homo sapiens | Africa | HGDP | 11 | Bantu in Kenya | aa:2;ag:7;gg:2 | 0.50 |
| 13 | BantuSouthAfrica | Homo sapiens | Africa | HGDP | 8 | Bantu in SouthAfrica | aa:4;ag:2;gg:2 | 0.38 |
| 14 | BiakaPygmy | Homo sapiens | Africa | HGDP | 21 | BiakaPygmy | aa:1;ag:10;gg:10 | 0.71 |
| 15 | Mandenka | Homo sapiens | Africa | HGDP | 22 | Mandenka | aa:6;ag:12;gg:4 | 0.45 |
| 16 | MbutiPygmy | Homo sapiens | Africa | HGDP | 13 | MbutiPygmy | aa:1;ag:6;gg:6 | 0.69 |
| 17 | Mozabite | Homo sapiens | Africa | HGDP | 27 | Mozabite | aa:2;ag:7;gg:18 | 0.80 |
| 18 | San | Homo sapiens | Africa | HGDP | 5 | San | aa:0;ag:0;gg:5 | 1.00 |
| 19 | Yoruba | Homo sapiens | Africa | HGDP | 21 | Yoruba | aa:3;ag:12;gg:6 | 0.57 |
| 20 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | aa:2;ag:0;gg:0 | 0.00 |
| 21 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | aa:0;ag:0;gg:2 | 1.00 |
| 22 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | aa:1;ag:0;gg:1 | 0.50 |
| 23 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | aa:0;ag:2;gg:0 | 0.50 |
| 24 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | aa:2;ag:0;gg:1 | 0.33 |
| 25 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | aa:1;ag:1;gg:0 | 0.25 |
| 26 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | aa:1;ag:1;gg:0 | 0.25 |
| 27 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | aa:0;ag:1;gg:3 | 0.88 |
| 28 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | aa:0;ag:0;gg:2 | 1.00 |
| 29 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | aa:0;ag:1;gg:1 | 0.75 |
| 30 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | aa:0;ag:1;gg:1 | 0.75 |
| 31 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | aa:0;ag:2;gg:1 | 0.67 |
| 32 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | aa:0;ag:1;gg:1 | 0.75 |
| 33 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | aa:0;ag:2;gg:2 | 0.75 |
| 34 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | aa:0;ag:1;gg:1 | 0.75 |
| 35 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | aa:0;ag:1;gg:1 | 0.75 |
| 36 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | aa:0;ag:2;gg:0 | 0.50 |
| 37 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | aa:0;ag:0;gg:1 | 1.00 |
| 38 | Baka_Cameroon | Homo sapiens | Africa | NegPyg | 58 | Baka_Cameroon | aa:7;ag:31;gg:20 | 0.61 |
| 39 | Baka_Gabon | Homo sapiens | Africa | NegPyg | 16 | Baka_Gabon | aa:2;ag:4;gg:10 | 0.75 |
| 40 | Bakiga | Homo sapiens | Africa | NegPyg | 35 | Bakiga | aa:5;ag:19;gg:11 | 0.59 |
| 41 | Batwa | Homo sapiens | Africa | NegPyg | 32 | Batwa | aa:1;ag:17;gg:14 | 0.70 |
| 42 | Bongo_Gabon_East | Homo sapiens | Africa | NegPyg | 22 | Bongo_Gabon_ East | aa:4;ag:12;gg:6 | 0.55 |
| 43 | Bongo_Gabon_South | Homo sapiens | Africa | NegPyg | 24 | Bongo_Gabon_ South | aa:3;ag:14;gg:7 | 0.58 |
| 44 | Nzebi_Gabon | Homo sapiens | Africa | NegPyg | 20 | Nzebi_Gabon | aa:4;ag:7;gg:9 | 0.63 |
| 45 | Nzime_Cameroon | Homo sapiens | Africa | NegPyg | 53 | Nzime_Cameroon | aa:11;ag:28;gg:14 | 0.53 |
| 46 | BiakaPygmy | Homo sapiens | Africa | NegPyg | 21 | BiakaPygmy | aa:1;ag:10;gg:10 | 0.71 |
| 47 | MbutiPygmy | Homo sapiens | Africa | NegPyg | 13 | MbutiPygmy | aa:1;ag:6;gg:6 | 0.69 |
| 48 | ColouredColesberg | Homo sapiens | Africa | NegPyg | 20 | ColouredColesberg | aa:1;ag:3;gg:16 | 0.88 |
| 49 | ColouredWellington | Homo sapiens | Africa | NegPyg | 20 | ColouredWellington | aa:1;ag:7;gg:12 | 0.78 |
| 50 | GuiGhanaKgal | Homo sapiens | Africa | NegPyg | 11 | GuiGhanaKgal | aa:1;ag:5;gg:5 | 0.68 |
| 51 | Juhoansi | Homo sapiens | Africa | NegPyg | 18 | Juhoansi | aa:0;ag:3;gg:15 | 0.92 |
| 52 | Karretjie | Homo sapiens | Africa | NegPyg | 20 | Karretjie | aa:1;ag:4;gg:15 | 0.85 |
| 53 | Khomani | Homo sapiens | Africa | NegPyg | 38 | Khomani | aa:1;ag:10;gg:27 | 0.84 |
| 54 | Khwe | Homo sapiens | Africa | NegPyg | 16 | Khwe | aa:2;ag:7;gg:7 | 0.66 |
| 55 | Nama | Homo sapiens | Africa | NegPyg | 20 | Nama | aa:0;ag:8;gg:12 | 0.80 |
| 56 | SEBantu | Homo sapiens | Africa | NegPyg | 20 | SEBantu | aa:5;ag:12;gg:3 | 0.45 |
| 57 | SWBantu | Homo sapiens | Africa | NegPyg | 12 | SWBantu | aa:3;ag:2;gg:7 | 0.67 |
| 58 | XunD | Homo sapiens | Africa | NegPyg | 19 | XunD | aa:0;ag:5;gg:14 | 0.87 |
| 59 | amaXhosa | Homo sapiens | Africa | NegPyg | 15 | amaXhosa | aa:4;ag:2;gg:9 | 0.67 |
| 60 | Basters | Homo sapiens | Africa | NegPyg | 30 | Basters | aa:0;ag:8;gg:22 | 0.87 |
| 61 | ColouredD6 | Homo sapiens | Africa | NegPyg | 8 | ColouredD6 | aa:0;ag:1;gg:7 | 0.94 |
| 62 | ColouredEC | Homo sapiens | Africa | NegPyg | 7 | ColouredEC | aa:0;ag:2;gg:5 | 0.86 |
| 63 | ColouredNC | Homo sapiens | Africa | NegPyg | 10 | ColouredNC | aa:0;ag:3;gg:7 | 0.85 |
| 64 | Juhoan | Homo sapiens | Africa | NegPyg | 19 | Juhoan | aa:0;ag:6;gg:13 | 0.84 |
| 65 | Xun | Homo sapiens | Africa | NegPyg | 10 | Xun | aa:0;ag:2;gg:8 | 0.90 |
| 66 | XunV | Homo sapiens | Africa | NegPyg | 4 | XunV | aa:0;ag:1;gg:3 | 0.88 |
| 67 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:0;ag:11;gg:88 | 0.94 |
| 68 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | aa:0;ag:18;gg:89 | 0.92 |
| 69 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | aa:2;ag:22;gg:75 | 0.87 |
| 70 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | aa:0;ag:9;gg:82 | 0.95 |
| 71 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | aa:0;ag:9;gg:98 | 0.96 |
| 72 | CEU | Homo sapiens | WestEurasia | HapMap | 164 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:0;ag:23;gg:141 | 0.93 |
| 73 | TSI | Homo sapiens | WestEurasia | HapMap | 102 | Toscani in Italia | aa:0;ag:9;gg:93 | 0.96 |
| 74 | Basque | Homo sapiens | WestEurasia | HGDP | 24 | Basque | aa:0;ag:2;gg:22 | 0.96 |
| 75 | Bedouin | Homo sapiens | WestEurasia | HGDP | 45 | Bedouin | aa:1;ag:11;gg:33 | 0.86 |
| 76 | Druze | Homo sapiens | WestEurasia | HGDP | 42 | Druze | aa:0;ag:13;gg:29 | 0.85 |
| 77 | French | Homo sapiens | WestEurasia | HGDP | 28 | French | aa:0;ag:2;gg:26 | 0.96 |
| 78 | Italian | Homo sapiens | WestEurasia | HGDP | 12 | Italian | aa:0;ag:0;gg:12 | 1.00 |
| 79 | Orcadian | Homo sapiens | WestEurasia | HGDP | 15 | Orcadian | aa:0;ag:1;gg:14 | 0.97 |
| 80 | Palestinian | Homo sapiens | WestEurasia | HGDP | 46 | Palestinian | aa:0;ag:4;gg:42 | 0.96 |
| 81 | Sardinian | Homo sapiens | WestEurasia | HGDP | 28 | Sardinian in Italy | aa:1;ag:3;gg:24 | 0.91 |
| 82 | Tuscan | Homo sapiens | WestEurasia | HGDP | 8 | Tuscan in Italy | aa:0;ag:1;gg:7 | 0.94 |
| 83 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | aa:0;ag:0;gg:2 | 1.00 |
| 84 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | aa:0;ag:0;gg:2 | 1.00 |
| 85 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | aa:0;ag:0;gg:1 | 1.00 |
| 86 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | aa:0;ag:0;gg:2 | 1.00 |
| 87 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | aa:0;ag:0;gg:2 | 1.00 |
| 88 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | aa:1;ag:0;gg:1 | 0.50 |
| 89 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | aa:0;ag:0;gg:2 | 1.00 |
| 90 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | aa:0;ag:0;gg:2 | 1.00 |
| 91 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | aa:0;ag:0;gg:1 | 1.00 |
| 92 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | aa:0;ag:1;gg:1 | 0.75 |
| 93 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | aa:0;ag:0;gg:1 | 1.00 |
| 94 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | aa:0;ag:1;gg:1 | 0.75 |
| 95 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | aa:0;ag:1;gg:1 | 0.75 |
| 96 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | aa:0;ag:0;gg:2 | 1.00 |
| 97 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | aa:0;ag:0;gg:3 | 1.00 |
| 98 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | aa:0;ag:1;gg:2 | 0.83 |
| 99 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | aa:0;ag:1;gg:1 | 0.75 |
| 100 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | aa:0;ag:0;gg:2 | 1.00 |
| 101 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | aa:0;ag:0;gg:2 | 1.00 |
| 102 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | aa:0;ag:1;gg:1 | 0.75 |
| 103 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | aa:0;ag:0;gg:2 | 1.00 |
| 104 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | aa:0;ag:0;gg:2 | 1.00 |
| 105 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | aa:0;ag:1;gg:2 | 0.83 |
| 106 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | aa:0;ag:0;gg:2 | 1.00 |
| 107 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | aa:0;ag:0;gg:2 | 1.00 |
| 108 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | aa:0;ag:0;gg:1 | 1.00 |
| 109 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | aa:0;ag:1;gg:1 | 0.75 |
| 110 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | aa:0;ag:0;gg:1 | 1.00 |
| 111 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | aa:0;ag:0;gg:2 | 1.00 |
| 112 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | aa:0;ag:0;gg:2 | 1.00 |
| 113 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | aa:0;ag:0;gg:1 | 1.00 |
| 114 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | aa:0;ag:0;gg:3 | 1.00 |
| 115 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | aa:0;ag:0;gg:2 | 1.00 |
| 116 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | aa:0;ag:1;gg:1 | 0.75 |
| 117 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,736 | Finnish | aa:22;ag:366;gg: 1348 | 0.88 |
| 118 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,293 | Estonian | aa:7;ag:252;gg:2034 | 0.94 |
| 119 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,298 | North-Western European | aa:23;ag:595;gg:3680 | 0.93 |
| 120 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,069 | Other non-Finnish European | aa:8;ag:133;gg:928 | 0.93 |
| 121 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 53 | Southern European | aa:0;ag:7;gg:46 | 0.93 |
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