|
|
|
| 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 |
| 26 |
Bouakaze et al. |
International J of legal medicine |
2009 |
C>A,G,T |
Asian |
Siberia |
MC1R |
rs1805007 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Asian |
Siberia |
MC1R |
rs1805008 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Asian |
Siberia |
HERC2 |
rs12913832 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G,T |
Asian |
Siberia |
OCA2 |
rs7495174 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C |
Asian |
Siberia |
OCA2 |
rs6497268 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G,T |
Asian |
Siberia |
OCA2 |
rs11855019 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>T |
Asian |
Siberia |
OCA2 |
rs1545397 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A,G |
Asian |
Siberia |
SLC45A2 |
rs16891982 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G,T |
Asian |
Siberia |
SLC24A5 |
rs1426654 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Asian |
Siberia |
DCT |
rs2031526 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
| 27 |
Edwards et al. |
Plos Genetics |
2010 |
T>C |
Asian |
Canadian East Asian |
OCA2 |
rs1800414 |
H591R |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
Asian |
Canadian East Asian |
OCA2 |
rs7495174 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>T |
Asian |
Canadian East Asian |
OCA2 |
rs1545397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
Asian |
Canadian East Asian |
DCT |
rs1407995 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
A>G |
Asian |
Canadian East Asian |
DCT |
rs2031526 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
C>T |
Asian |
Canadian East Asian |
ADAM17 |
rs4328603 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
C>T |
Asian |
Canadian East Asian |
ADAMTS20 |
rs11182091 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
C>T |
Asian |
Canadian East Asian |
ADAMTS20 |
rs1510523 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
A>G |
Asian |
Canadian East Asian |
ADAMTS20 |
rs11182085 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
A>C |
Asian |
Canadian East Asian |
TYRP1 |
rs2075509 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
| 28 |
Walsh et al. |
Forensic Science International: Genetics |
2011 |
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>T |
Asian |
Asian |
OCA2 |
rs1545397 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>C |
European |
European |
SLC45A2 |
rs16891982 |
NA |
Eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G,T |
European |
European |
SLC24A5 |
rs1426654 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Asian |
Asian |
MC1R |
rs885479 |
NA |
Eye color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A,G |
African |
African |
ASIP |
rs6119471 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
C > T |
African |
African |
IRF4 |
rs12203592 |
NA |
Eye color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
| 29 |
Valenzuela et al. |
Journal of Forensic sciences |
2010 |
C>T |
North American |
Arizona |
OCA2 |
rs1800401 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
North American |
Arizona |
OCA2 |
rs1800402 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
North American |
Arizona |
OCA2 |
rs1800407 |
R419Q |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G,T |
North American |
Arizona |
SLC24A5 |
rs1426654 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
North American |
Arizona |
ASIP |
rs6058017 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
| 30 |
Spichenok et al. |
Forensic Science International: Genetics |
2011 |
G>A |
Admixed |
European, African- American , Asian |
HERC2 |
rs12913832 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>T |
Admixed |
European, African- American , Asian |
OCA2 |
rs1545397 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>C |
Admixed |
European, African- American , Asian |
SLC45A2 |
rs16891982 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G,T |
Admixed |
European, African- American , Asian |
SLC24A5 |
rs1426654 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Admixed |
European, African- American , Asian |
MC1R |
rs885479 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A,G |
Admixed |
European, African- American , Asian |
ASIP |
rs6119471 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
C > T |
Admixed |
European, African- American , Asian |
IRF4 |
rs12203592 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|