|
|
|
| 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 |
| 46 |
Abe et al. |
Journal of Dermatological science |
2013 |
G>C |
Asian |
Japanese |
SLC45A2 |
rs11568737 |
T500P |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>C |
Asian |
Japanese |
SLC45A2 |
rs3733808 |
V507L |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>A,G |
Asian |
Japanese |
SLC45A2 |
rs16891982 |
L374F |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A |
Asian |
Japanese |
SLC45A2 |
rs26722 |
E272K |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>T |
Asian |
Japanese |
TYR |
rs13312741 |
D125Y |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>A,C |
Asian |
Japanese |
OCA2 |
rs1800414 |
H591R |
Skin color |
NA |
NA |
NA |
5.72×10-6 |
15 |
Intragenic |
|
|
|
|
G>A |
Asian |
Japanese |
OCA2 |
rs74653330 |
A481T |
Skin color |
NA |
NA |
NA |
6.18×10-8 |
15 |
Intragenic |
|
|
|
|
C>T |
Asian |
Japanese |
OCA2 |
rs150335311 |
T387M |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G > A |
Asian |
Japanese |
MC1R |
rs34090186 |
R67Q |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G > A,C |
Asian |
Japanese |
MC1R |
rs2228479 |
V92M |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>C |
Asian |
Japanese |
MC1R |
rs33932559 |
I120T |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Asian |
Japanese |
MC1R |
rs885479 |
R163Q |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
| 47 |
Ruiz et al. |
Forensic Science International: Genetics |
2013 |
A > G |
European |
European |
ASIP |
rs1015362 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
C>A |
European |
European |
HERC2 |
rs7183877 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C > T |
European |
European |
TYRP1 |
rs1408799 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G > A |
European |
European |
TYR |
rs1393350 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
European |
OCA2 |
rs4778232 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs8024968 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs1800407 |
R419Q |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
European |
HERC2 |
rs1129038 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
3 prime UTR |
|
|
|
|
A>G |
European |
European |
ASIP |
rs6058017 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs1375164 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C > A |
European |
European |
TYRP1 |
rs683 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
| 48 |
Praetorius et al. |
NIH public press |
2013 |
C > T |
European |
Icelandic |
IRF4 |
rs12203592 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
NA |
European |
Icelandic |
IRF4 |
rs872701 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
| 49 |
Wilde et al. |
PNAS |
2014 |
C > G |
European |
European |
SLC45A2 |
rs16891982 |
Leu374Phe |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A > G |
European |
European |
HERC2 |
rs12913832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C > A |
European |
European |
TYR |
rs1042602 |
Ser192Tyr |
Eye, skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
| 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 |
Intragenic |
|
|
|
|
C>G,T |
Asian |
East Asian |
BNC2 |
rs2153271 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A |
Asian |
East Asian |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A,C |
Asian |
East Asian |
IRF4 |
rs12205392 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
T>A,G |
European |
European |
BNC2 |
rs10810657 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G>A,C,T |
European |
European |
BNC2 |
rs12350739 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|