|
|
|
| Sl no |
Reference |
Journal |
Publication year |
Allele |
Population |
Sub populations |
Gene |
SNP |
Amino acid change |
Trait |
Discovery OR (95% CI) |
Replication 1 OR (95% CI) |
Replication 2 OR (95% CI) |
p value |
Chromosome |
Functional Consequence |
| 81 |
Pavan et al. |
Annual Review of Genomics and Human Genetics |
2019 |
C > A |
Others |
African, Latin Americans, Europeans |
TYR |
rs1042602 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G > A |
Others |
African, Latin Americans, Europeans |
TYR |
rs1126809 |
R402Q |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs12913832 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G,T |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs7495174 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs4778241 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G,T |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs4778138 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs1448484 |
NA |
NA |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs1800401 |
R305W |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs1800407 |
R419Q |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs121918166 |
V419I |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs74653330 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C |
Others |
African, Latin Americans, Europeans |
OCA2 |
rs1800414 |
H591R |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C > T |
Others |
African, Latin Americans, Europeans |
TYRP1 |
rs1408799 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
TYRP1 |
rs387907171 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,T |
Others |
African, Latin Americans, Europeans |
TYRP1 |
rs61752937 |
NA |
NA |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
SLC45A2 |
rs26722 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>G |
Others |
African, Latin Americans, Europeans |
SLC45A2 |
rs16891982 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G,T |
Others |
African, Latin Americans, Europeans |
SLC24A5 |
rs1426654 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Others |
African, Latin Americans, Europeans |
LRMDA |
rs11001536 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
C>A,T |
Others |
African, Latin Americans, Europeans |
LRMDA |
rs35349706 |
NA |
NA |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
G>A,T |
Others |
African, Latin Americans, Europeans |
LRMDA |
rs75852090 |
NA |
NA |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
A>C,G,T |
Others |
African, Latin Americans, Europeans |
LRMDA |
rs7923619 |
NA |
NA |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
A > G |
Others |
African, Latin Americans, Europeans |
ASIP |
rs4911442 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>G |
Others |
African, Latin Americans, Europeans |
ASIP |
rs6059655 |
NA |
NA |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
C>G,T |
Others |
African, Latin Americans, Europeans |
BNC2 |
rs2153271 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
NA |
Others |
African, Latin Americans, Europeans |
BNC2 |
rs10765819 |
NA |
NA |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,C,T |
Others |
African, Latin Americans, Europeans |
BNC2 |
rs12350739 |
NA |
NA |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
C>A,G |
Others |
African, Latin Americans, Europeans |
BNC2 |
rs62543565 |
NA |
NA |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
T>A,C,G |
Others |
African, Latin Americans, Europeans |
DUT |
rs1407995 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Others |
African, Latin Americans, Europeans |
DUT |
rs2031526 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C > T |
Others |
African, Latin Americans, Europeans |
IRF4 |
rs12203592 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
G>A,C,T |
Others |
African, Latin Americans, Europeans |
KIT |
rs115585711 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
A>C,G,T |
Others |
African, Latin Americans, Europeans |
KIT |
rs3822214 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
T>A,C,G |
Others |
African, Latin Americans, Europeans |
KITLG |
rs12821256 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
12 |
NA |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs3212379 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs1805005 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A |
Others |
African, Latin Americans, Europeans |
MC1R |
rs1805006 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
MC1R |
rs2228479 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs34158934 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
MC1R |
rs11547464 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs1805007 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A |
Others |
African, Latin Americans, Europeans |
MC1R |
rs201326893 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>C |
Others |
African, Latin Americans, Europeans |
MC1R |
rs1110400 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs1805008 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
MC1R |
rs885479 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
->c |
Others |
African, Latin Americans, Europeans |
MC1R |
rs555179612 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>G,T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs200000734 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A,C |
Others |
African, Latin Americans, Europeans |
MC1R |
rs1805009 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
MC1R |
rs368507952 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A,T |
Others |
African, Latin Americans, Europeans |
MC1R |
rs149617956 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>C |
Others |
African, Latin Americans, Europeans |
MC1R |
rs9823839 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
NA |
Others |
African, Latin Americans, Europeans |
POMC |
rs7664S364 |
NA |
Hair color |
NA |
NA |
NA |
NA |
2 |
NA |
|
|
|
|
G > T |
Others |
African, Latin Americans, Europeans |
SLC24A4 |
rs12896399 |
NA |
Eye color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
A>G,T |
Others |
African, Latin Americans, Europeans |
SLC24A4 |
rs8014907 |
NA |
Eye color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs72930659 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
NA |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs72928978 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>C,G |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs3750965 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>T |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs35264875 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs3829241 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs4930263 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs2376558 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>T |
Others |
African, Latin Americans, Europeans |
TPCN2 |
rs10896418 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
3 prime UTR |
|
|
|
|
G>C |
Others |
African, Latin Americans, Europeans |
SLC45A1 |
rs80293268 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
T>C |
Others |
African, Latin Americans, Europeans |
DSTYK |
rs2369633 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Upstream |
|
|
|
|
G>C |
Others |
African, Latin Americans, Europeans |
FOSL2 |
rs71443018 |
NA |
Hair color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
LHX2 |
rs58979150 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intergenic |
|
|
|
|
C>A,T |
Others |
African, Latin Americans, Europeans |
BCAS1 |
rs7313291 |
NA |
Hair color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
FGF5 |
rs7681907 |
NA |
Hair color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
NA |
Others |
African, Latin Americans, Europeans |
SOX5 |
rs997729 |
NA |
Hair color |
NA |
NA |
NA |
NA |
12 |
NA |
|
|
|
|
A>C,G,T |
Others |
African, Latin Americans, Europeans |
TSPAN10 |
rs6420484 |
NA |
Hair color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
T >C |
Others |
African, Latin Americans, Europeans |
PA2G4P4 |
rs9818780 |
NA |
Tanning |
NA |
NA |
NA |
NA |
3 |
Intragenic |
|
|
|
|
G>C |
Others |
African, Latin Americans, Europeans |
PPARGC1B |
rs25146 |
NA |
Tanning |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
AHRIAGR3 |
rs17132860 |
NA |
Tanning |
NA |
NA |
NA |
NA |
NA |
NA |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
TRPSI |
rs2737212 |
NA |
Tanning |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
EMX2 |
rs35563099 |
NA |
Tanning |
NA |
NA |
NA |
NA |
10 |
Intergenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
EMX2 |
rs11198112 |
NA |
Tanning |
NA |
NA |
NA |
NA |
10 |
NA |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
ATPIIA |
rs1046793 |
NA |
Tanning |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
A>G |
Others |
African, Latin Americans, Europeans |
KIAA0930 |
rs1703668 |
NA |
Tanning |
NA |
NA |
NA |
NA |
22 |
NA |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
BNC2 |
rs10810650 |
NA |
Tanning |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G>T |
Others |
African, Latin Americans, Europeans |
MFSD12 |
rs5620314 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
NA |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
MFSD12 |
rs6510760 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>C |
Others |
African, Latin Americans, Europeans |
MFSD12 |
rs112 332856 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
NA |
|
|
|
|
A>G |
Others |
African, Latin Americans, Europeans |
MFSD12 |
rs77733715 |
NA |
Tanning |
NA |
NA |
NA |
NA |
19 |
Downstream |
|
|
|
|
T>A |
Others |
African, Latin Americans, Europeans |
DDB1 |
rs7948523 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
Others |
African, Latin Americans, Europeans |
DDB1 |
rs872257 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
Others |
African, Latin Americans, Europeans |
SNX13 |
rs2110015 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
NA |
| 82 |
Durazo et al. |
BMC Genetics |
2019 |
A>T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
GRM5, TYR |
rs10160510 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
GABRG3, OCA2 |
rs3098576 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs1448484 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
HERC2 |
rs1667392 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
APBA2 |
rs36194177 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
FAM189A1 |
rs2636060 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs10416746 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
NA |
|
|
|
|
G>C,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
SLC45A2 |
rs35397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>A,G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>C,G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
SLC45A2 |
rs35407 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs10160510 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>A |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs10437581 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>C |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs12801588 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A,C |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs28437494 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
NA |
|
|
|
|
G>C,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs4121729 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
NA |
|
|
|
|
T>C |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
TYR |
rs7925346 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
NA |
|
|
|
|
C>T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs3098576 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs1448484 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs1667392 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs36194177 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs2636060 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs1129038 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
3 prime UTR |
|
|
|
|
A>G,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
SLC24A5 |
rs2470102 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs10416746 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
NA |
|
|
|
|
T>C |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs112332856 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
NA |
|
|
|
|
T>A,C,G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs80204200 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs7256261 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
G>A,C |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs6510760 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
C>G,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs10424065 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
C>A,G,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
MFSD12 |
rs56203814 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
BEND7, PRPF18 |
rs6602666 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
NA |
|
|
|
|
T>C |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
DDB1 |
rs11230664 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
DDB1 |
rs7120594 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>A,C,G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
DDB1 |
rs7948623 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A,C,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
DDB1 |
rs2513329 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>C,G,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
GRM5, TYR |
rs10831496 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>A,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
OCA2 |
rs1800404 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C,G |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
HERC2 |
rs4932620 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A,G,T |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
APBA2 |
rs4424881 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Admixed |
Cape Verde, Puerto Rico, San Francisco, African-American |
LOC102724084 |
rs139343937 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
| 83 |
Zaorska et al. |
Human Genetics |
2019 |
A>C |
European |
Polish |
OCA2 |
rs4778241 |
NA |
Skin color |
NA |
NA |
NA |
0.0498 |
15 |
Intragenic |
|
|
|
|
A>C,G,T |
European |
Polish |
OCA2 |
rs4778138 |
NA |
Skin color |
NA |
NA |
NA |
0.0337 |
15 |
Intragenic |
|
|
|
|
C>T |
European |
Polish |
OCA2 |
rs1800407 |
R419Q |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G,T |
European |
Polish |
VDR |
rs731236 |
NA |
Skin color |
NA |
NA |
NA |
0.0097 |
12 |
Intragenic |
|
|
|
|
A>G |
European |
Polish |
VDR |
rs731236 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
A>G |
European |
Polish |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>G |
European |
Polish |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>G |
European |
Polish |
ASIP |
rs1015362 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
T>A,G |
European |
Polish |
ASIP |
rs1015362 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
T>A,G |
European |
Polish |
ASIP |
rs4911414 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
C>G,T |
European |
Polish |
ASIP |
rs4911414 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
C>G,T |
European |
Polish |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
G>A |
European |
Polish |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
0.0056 |
6 |
Intragenic |
|
|
|
|
G>A |
European |
Polish |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
Polish |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A,T |
European |
Polish |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A,T |
European |
Polish |
SLC24A4 |
rs12896399 |
NA |
Skin color |
NA |
NA |
NA |
0.001 |
14 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
Polish |
MC1R |
rs1805007 |
NA |
Skin color |
NA |
NA |
NA |
0.0018 |
16 |
Intragenic |
|
|
|
|
C>A,G |
European |
Polish |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
| 84 |
Ganguly et al. |
Archives of Dermatological Research |
2019 |
A>T |
NA |
NA |
CEP152 |
rs7182710 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Upstream |
|
|
|
|
G>C |
NA |
NA |
CEP152 |
rs784416 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G,T |
NA |
NA |
CEP152 |
rs7176696 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>G |
NA |
NA |
ATP8B4 |
rs937171 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>C,G |
NA |
NA |
TYRP1 |
rs2762462 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Downstream |
|
|
|
|
C>G,T |
NA |
NA |
MFSD12 |
rs10424065 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
C>T |
NA |
NA |
MFSD12 |
rs142317543 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
A>G |
NA |
NA |
MC1R |
rs3212369 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
3 prime UTR |
|
|
|
|
G>A |
NA |
NA |
MC1R |
rs3212368 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
3 prime UTR |
| 85 |
Ju et al. |
PNAS |
2020 |
C>A,G |
Others |
West Eurasian |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G |
Others |
West Eurasian |
TYR |
rs1126809 |
R402Q |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
Others |
West Eurasian |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>G |
Others |
West Eurasian |
HERC2 |
rs1635168 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Others |
West Eurasian |
GRM5, TYR |
rs7109255 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
Others |
West Eurasian |
EDEM2 |
rs6120849 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>G |
Others |
West Eurasian |
RALGPS1 |
rs7870409 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>C,G,T |
Others |
West Eurasian |
OCA2 |
rs4778123 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>G,T |
Others |
West Eurasian |
BNC2 |
rs2153271 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A |
Others |
West Eurasian |
CTSC, GRM5 |
rs3758833 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|