|
|
| 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 |
| 46 |
Abe et al. |
Journal of Dermatological Science |
2013 |
G>C |
Asian |
Japanese |
SLC45A2 |
rs11568737 |
Thr500Pro |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Journal of Dermatological Science |
|
A>C |
Asian |
Japanese |
SLC45A2 |
rs3733808 |
Val507Leu |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Journal of Dermatological Science |
|
C>A,G |
Asian |
Japanese |
SLC45A2 |
rs16891982 |
His615Arg |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Journal of Dermatological Science |
|
G>A |
Asian |
Japanese |
SLC45A2 |
rs26722 |
Glu272Lys |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Journal of Dermatological Science |
|
G>T |
Asian |
Japanese |
TYR |
rs13312741 |
Asp125Tyr |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Journal of Dermatological Science |
|
T>A,C |
Asian |
Japanese |
OCA2 |
rs1800414 |
His615Arg |
Skin color |
NA |
NA |
NA |
5.72E-06 |
15 |
Exonic |
Missence |
|
|
Journal of Dermatological Science |
|
G>A |
Asian |
Japanese |
OCA2 |
rs74653330 |
Ala481Thr |
Skin color |
NA |
NA |
NA |
6.18E--8 |
15 |
Exonic |
Missence |
|
|
Journal of Dermatological Science |
|
C>T |
Asian |
Japanese |
OCA2 |
rs150335311 |
Thr387Met |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Journal of Dermatological Science |
|
G>A |
Asian |
Japanese |
MC1R |
rs34090186 |
Arg67Gln |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Dermatological Science |
|
G>A,C |
Asian |
Japanese |
MC1R |
rs2228479 |
Val92Met |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Dermatological Science |
|
T>C |
Asian |
Japanese |
MC1R |
rs33932559 |
His615Arg |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
Journal of Dermatological Science |
|
G>A |
Asian |
Japanese |
MC1R |
rs885479 |
Arg163Gln |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
| 47 |
Ruiz et al. |
Forensic Science International: Genetics |
2013 |
A>G |
European |
European |
ASIP |
rs1015362 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
Forensic Science International: Genetics |
|
C>A |
European |
European |
HERC2 |
rs7183877 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>T |
European |
European |
TYRP1 |
rs1408799 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
Forensic Science International: Genetics |
|
G>A |
European |
European |
TYR |
rs1393350 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>A,G,T |
European |
European |
OCA2 |
rs4778232 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>T |
European |
European |
OCA2 |
rs8024968 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>T |
European |
European |
OCA2 |
rs1800407 |
Arg419Gln |
Eye color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Forensic Science International: Genetics |
|
C>T |
European |
European |
HERC2 |
rs1129038 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
3 prime UTR |
NA |
|
|
Forensic Science International: Genetics |
|
A>G |
European |
European |
ASIP |
rs6058017 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>T |
European |
European |
OCA2 |
rs1375164 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>A |
European |
European |
TYRP1 |
rs683 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
| 48 |
Praetorius et al. |
Cell Press |
2013 |
C>T |
European |
Icelandic |
IRF4 |
rs12203592 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Cell Press |
|
NA |
European |
Icelandic |
IRF4 |
rs872701 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
| 49 |
Wilde et al. |
PNAS |
2014 |
C>G |
European |
European |
SLC45A2 |
rs16891982 |
Leu374Phe |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
PNAS |
|
A>G |
European |
European |
HERC2 |
rs12913832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
PNAS |
|
C>A |
European |
European |
TYR |
rs1042602 |
Ser192Tyr |
Eye, Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
| 50 |
Visser et al. |
Human Molecular Genetics |
2014 |
G>A,C,T |
Asian |
East Asian |
BNC2 |
rs10756819 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
Human Molecular Genetics |
|
C>G,T |
Asian |
East Asian |
BNC2 |
rs2153271 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
Human Molecular Genetics |
|
G>A |
Asian |
East Asian |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Molecular Genetics |
|
G>A,C |
Asian |
East Asian |
IRF4 |
rs12205392 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Human Molecular Genetics |
|
T>A,G |
European |
European |
BNC2 |
rs10810657 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
Human Molecular Genetics |
|
G>A,C,T |
European |
European |
BNC2 |
rs12350739 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |