|
|
|
| Sl. No. |
Reference |
Journal |
Publication Year |
Allele |
Population |
Sub Population |
Gene |
SNP |
Amino Acid Change |
Trait |
Discovery OR (95% CI) |
Replication 1 OR (95% CI) |
Replication 2 OR (95% CI) |
p-Value |
Chromosome |
Variant location |
Variant Type |
| 66 |
Martin et al. |
Cell |
2017 |
G>T |
African |
Khomani, Nama |
UGT1A |
rs6742078 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intronic |
NA |
|
|
Cell |
|
T>C |
African |
Khomani, Nama |
SLC45A2 |
rs35395 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Cell |
|
C>G |
African |
Khomani, Nama |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Cell |
|
C>T |
African |
Khomani, Nama |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Cell |
|
C>A,T |
African |
Khomani, Nama |
IRF4 |
rs12202284 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
NA |
NA |
|
|
Cell |
|
C>T |
African |
Khomani, Nama |
OPRM1 |
rs6917661 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
3 prime UTR |
NA |
|
|
Cell |
|
A>T |
African |
Khomani, Nama |
EGFR |
rs12668421 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
Intronic |
NA |
|
|
Cell |
|
A>G |
African |
Khomani, Nama |
TYRP1 |
rs13289810 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
3 prime UTR |
NA |
|
|
Cell |
|
G>A,C,T |
African |
Khomani, Nama |
BNC2 |
rs10756819 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
Cell |
|
A>G |
African |
Khomani, Nama |
GATA3 |
rs376397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
Intronic |
NA |
|
|
Cell |
|
A>C,G,T |
African |
Khomani, Nama |
GRM5, TYR |
rs10831496 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Cell |
|
C>A |
African |
Khomani, Nama |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
|
|
Cell |
|
T>A,C,G |
African |
Khomani, Nama |
KITLG |
rs12821256 |
NA |
Skin color |
NA |
NA |
NA |
2.00E-02 |
12 |
NA |
NA |
|
|
Cell |
|
C>T |
African |
Khomani, Nama |
OCA2 |
rs1800404 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Synonymous |
|
|
Cell |
|
A>G,T |
African |
Khomani, Nama |
OCA2 |
rs7495174 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Cell |
|
G>A |
African |
Khomani, Nama |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Cell |
|
C>A,G,T |
African |
Khomani, Nama |
APBA2 |
rs4424881 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Cell |
|
A>G,T |
African |
Khomani, Nama |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
NA |
|
|
Cell |
|
C>T |
African |
Khomani, Nama |
MC1R |
rs1805007 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
Missence |
| 67 |
Pacheco et al. |
Science Report |
2017 |
C>T |
African |
Hispanics, Latinos |
SST-RTP2 |
rs79592764 |
NA |
Skin color |
NA |
NA |
NA |
NA |
3 |
NA |
NA |
|
|
Science Report |
|
G>C,T |
African |
Hispanics, Latinos |
SLC45A2 |
rs35397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Science Report |
|
C>G |
African |
Hispanics, Latinos |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Science Report |
|
T>A,C |
African |
Hispanics, Latinos |
BEND7, PRPF18 |
rs6602665 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
NA |
NA |
|
|
Science Report |
|
A>G |
African |
Hispanics, Latinos |
BEND7, PRPF18 |
rs6602666 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
NA |
NA |
|
|
Science Report |
|
G>A |
African |
Hispanics, Latinos |
SLC24A5 |
rs2675345 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
A>G,T |
African |
Hispanics, Latinos |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
NA |
|
|
Science Report |
|
A>C,G |
African |
Hispanics, Latinos |
SLC24A5 |
rs2470102 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
G>A |
African |
Hispanics, Latinos |
MYEF2 |
rs8028919 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
C>T |
African |
Hispanics, Latinos |
DUT |
rs11637235 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
A>C,G,T |
African |
Hispanics, Latinos |
ATP8B4 |
rs2899446 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
A>G,T |
African |
Hispanics, Latinos |
ATP8B4 |
rs8033655 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
A>C,G,T |
African |
Hispanics, Latinos |
ATP8B4 |
rs7180182 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Science Report |
|
C>G,T |
African |
Hispanics, Latinos |
EIF2S2 |
rs6142102 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
| 68 |
Fracasso et al. |
Legal Medicine |
2017 |
T>C |
South American |
Brazilian |
SLC45A2 |
rs732740 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
C>T |
South American |
Brazilian |
SLC45A2 |
rs250413 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
T>C |
South American |
Brazilian |
SLC45A2 |
rs181832 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
G>A |
South American |
Brazilian |
SLC45A2 |
rs3776549 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
T>C |
South American |
Brazilian |
SLC45A2 |
rs3756462 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
G>A |
South American |
Brazilian |
SLC45A2 |
rs26722 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
G>A |
South American |
Brazilian |
SLC45A2 |
rs2287949 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Legal Medicine |
|
G>C |
South American |
Brazilian |
SLC45A2 |
rs250417 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
G>C |
South American |
Brazilian |
SLC45A2 |
rs16891982 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Legal Medicine |
|
T>C |
South American |
Brazilian |
SLC45A2 |
rs40132 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
A>G |
South American |
Brazilian |
SLC45A2 |
rs35394 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Legal Medicine |
|
G>C |
South American |
Brazilian |
SLC45A2 |
rs3733808 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
| 69 |
Gorska et al. |
Journal of Comparative Human Biology |
2017 |
A>G |
European |
Poland |
HERC2 |
rs12913832 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Journal of Comparative Human Biology |
|
NA |
European |
Poland |
MC1R |
rs312262906 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
G>T |
European |
Poland |
MC1R |
rs1805005 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
C>A |
European |
Poland |
MC1R |
rs1805006 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
G>A,C |
European |
Poland |
MC1R |
rs34540312 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
Missence |
|
|
Journal of Comparative Human Biology |
|
G>A |
European |
Poland |
MC1R |
rs2228479 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
C>G,T |
European |
Poland |
MC1R |
rs200616835 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
Synonymous |
|
|
Journal of Comparative Human Biology |
|
G>A |
European |
Poland |
MC1R |
rs11547464 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
C>T |
European |
Poland |
MC1R |
rs1805007 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
T>C |
European |
Poland |
MC1R |
rs1110400 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
C>T |
European |
Poland |
MC1R |
rs1805008 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
G>A |
European |
Poland |
MC1R |
rs885479 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
G>A,C |
European |
Poland |
MC1R |
rs1805009 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
A>G |
European |
Poland |
MC1R |
rs2228478 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
Synonymous |
|
|
Journal of Comparative Human Biology |
|
G>A |
European |
Poland |
OCA2 |
rs1800401 |
Arg305Trp |
Hair color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Journal of Comparative Human Biology |
|
A>G |
European |
Poland |
SLC24A5 |
rs1426654 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
C>G |
European |
Poland |
SLC45A2 |
rs16891982 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Journal of Comparative Human Biology |
|
C>A |
European |
Poland |
SLC45A2 |
rs28777 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Journal of Comparative Human Biology |
|
A>T |
European |
Poland |
TPCN2 |
rs35264875 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Journal of Comparative Human Biology |
|
G>A |
European |
Poland |
TPCN2 |
rs3829241 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Journal of Comparative Human Biology |
|
C>A |
European |
Poland |
TYR |
rs1042602 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
|
|
Journal of Comparative Human Biology |
|
T>C |
European |
Poland |
TYRP1 |
rs1408799 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
| 70 |
Walsh et al. |
Human Genetics |
2017 |
A>G,T |
European |
Poland, Ireland, Greece |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
NA |
|
|
Human Genetics |
|
C>T |
European |
Poland, Ireland, Greece |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Human Genetics |
|
C>T |
European |
Poland, Ireland, Greece |
MC1R |
rs1805007 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
T>A,C |
European |
Poland, Ireland, Greece |
OCA2 |
rs1800414 |
His615Arg |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Human Genetics |
|
C>G |
European |
Poland, Ireland, Greece |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
HERC2 |
rs1667394 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
C>T |
European |
Poland, Ireland, Greece |
MC1R |
rs1805008 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
C>T |
European |
Poland, Ireland, Greece |
OCA2 |
rs1800407 |
Arg419Gln |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
MC1R |
rs11547464 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
MC1R |
rs885479 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
MC1R |
rs2228479 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
C>A |
European |
Poland, Ireland, Greece |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
|
|
Human Genetics |
|
C>A |
European |
Poland, Ireland, Greece |
MC1R |
rs1805006 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
A>G |
European |
Poland, Ireland, Greece |
RALY |
rs6059655 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
Human Genetics |
|
A>G |
European |
Poland, Ireland, Greece |
HERC2 |
rs2238289 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
A>G |
European |
Poland, Ireland, Greece |
DEF8 |
rs8051733 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intronic |
NA |
|
|
Human Genetics |
|
C>T |
European |
Poland, Ireland, Greece |
HERC2 |
rs1129038 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
3 prime UTR |
NA |
|
|
Human Genetics |
|
T>C |
European |
Poland, Ireland, Greece |
MC1R |
rs1110400 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
TYR |
rs1126809 |
Arg402Gln |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A |
European |
Poland, Ireland, Greece |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Human Genetics |
|
C>T |
European |
Poland, Ireland, Greece |
MC1R |
rs3212355 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
Missence |
|
|
Human Genetics |
|
G>A,C |
European |
Poland, Ireland, Greece |
PIGU |
rs2378249 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
Human Genetics |
|
C>A |
European |
Poland, Ireland, Greece |
SLC45A2 |
rs28777 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A,C |
European |
Poland, Ireland, Greece |
OCA2 |
rs12441727 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
C>A,G |
European |
Poland, Ireland, Greece |
ASIP |
rs6119471 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A,C,T |
European |
Poland, Ireland, Greece |
SLC24A4 |
rs2402130 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
Human Genetics |
|
A>G |
European |
Poland, Ireland, Greece |
SLC24A4 |
rs17128291 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
Human Genetics |
|
G>T |
European |
Poland, Ireland, Greece |
SLC24A4 |
rs12896399 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
Human Genetics |
|
A>G |
European |
Poland, Ireland, Greece |
HERC2 |
rs6497292 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A,C,T |
European |
Poland, Ireland, Greece |
OCA2 |
rs1470608 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
C>A |
European |
Poland, Ireland, Greece |
TYRP1 |
rs683 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
Human Genetics |
|
T>A,C,G |
European |
Poland, Ireland, Greece |
KITLG |
rs12821256 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
NA |
NA |
|
|
Human Genetics |
|
A>T |
European |
Poland, Ireland, Greece |
OCA2 |
rs1545397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
T>A,C,G |
European |
Poland, Ireland, Greece |
ANKRD11 |
rs3114908 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A,C,T |
European |
Poland, Ireland, Greece |
BNC2 |
rs10756819 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|