|
|
|
| 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 |
| 16 |
Yuasa et al. |
Biochemical genetics |
2007 |
NA |
Asian |
Eurasia |
MC1R |
NA |
R163Q |
Skin color |
NA |
NA |
NA |
NA |
16 |
NA |
|
|
|
|
NA |
Asian |
Eurasia |
OCA2 |
NA |
H615R |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
| 17 |
Han et al. |
Plos Genetics |
2008 |
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
European |
HERC2 |
rs1667394 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
European |
HERC2 |
rs8039195 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
European |
HERC2 |
rs11636232 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A |
European |
European |
HERC2 |
rs7183877 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>G |
European |
European |
HERC2 |
rs1635168 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>C |
European |
European |
HERC2 |
rs8028689 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
European |
HERC2 |
rs16950987 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C > T |
European |
European |
IRF4 |
rs12203592 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
A>G,T |
European |
European |
MC1R |
rs258322 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
A>C,T |
European |
European |
MC1R |
rs4785763 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
European |
European |
MC1R |
rs8049897 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>C,T |
European |
European |
MC1R |
rs4238833 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C >G,T |
European |
European |
MC1R |
rs4408545 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C >G,T |
European |
European |
MC1R |
rs7204478 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
European |
MC1R |
rs7196459 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
A>G,T |
European |
European |
MC1R |
rs164741 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
European |
European |
MC1R |
rs7188458 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
European |
European |
MC1R |
rs2353033 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
European |
European |
MC1R |
rs7195066 |
G809D |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A,C |
European |
European |
MC1R |
rs2241039 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
A>C |
European |
European |
OCA2 |
rs6497268 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G,T |
European |
European |
OCA2 |
rs11855019 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
European |
OCA2 |
rs7174027 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G,T |
European |
European |
OCA2 |
rs7495174 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C |
European |
European |
OCA2 |
rs4778211 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G > T |
European |
European |
SLC24A4 |
rs12896399 |
NA |
Hair color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
T>C |
European |
European |
MATP |
rs35391 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>A |
European |
European |
MATP |
rs28777 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
T>C |
European |
European |
KIF26A |
rs8007923 |
NA |
Hair color |
NA |
NA |
NA |
NA |
14 |
NA |
|
|
|
|
G>A,C |
European |
European |
EXOC2 |
rs9392056 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
European |
EXOC2 |
rs2493040 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
A>G |
European |
European |
EXOC2 |
rs6918152 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
T>C,G |
European |
European |
OBSCN |
rs12142165 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
| 18 |
Alonso et al. |
BMC Evolutionary Biology |
2008 |
T>A |
Others |
Others |
TYRP1 |
rs13293905 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
T>G |
Others |
Others |
TYRP1 |
rs10756393 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Upstream |
|
|
|
|
T>C,G |
Others |
Others |
TYRP1 |
rs2762462 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Downstream |
|
|
|
|
A>C,G,T |
Others |
Others |
TYRP1 |
rs2762463 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
C>A,G,T |
Others |
Others |
TYRP1 |
rs2733832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Downstream |
|
|
|
|
T>G |
Others |
Others |
TYRP1 |
rs2733833 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Downstream |
|
|
|
|
C>A |
Others |
Others |
TYRP1 |
rs2075509 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
T>C |
Others |
Others |
TYRP1 |
rs2209277 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
C>A |
Others |
Others |
TYRP1 |
rs683 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>T |
Others |
Others |
TYRP1 |
rs2762464 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>C,G,T |
Others |
Others |
TYRP1 |
rs910 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
T>A,C |
Others |
Others |
TYRP1 |
rs1063380 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A |
Others |
Others |
TYRP1 |
rs2733835 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G>A |
Others |
Others |
TYRP1 |
rs12379024 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>G |
Others |
Others |
TYRP1 |
rs10491744 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
C>A,G,T |
Others |
Others |
DCT |
rs1325611 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
T>A,C,G |
Others |
Others |
DCT |
rs1407995 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
A>C,G,T |
Others |
Others |
DCT |
rs2031526 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
C>G,T |
Others |
Others |
DCT |
rs3782972 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
A>G |
Others |
Others |
DCT |
rs6492706 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
T>C |
Others |
Others |
DCT |
rs9516418 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
C>T |
Others |
Others |
DCT |
rs9584234 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
G>A |
Others |
Others |
DCT |
rs12877248 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
NA |
|
|
|
|
G>A,C,T |
Others |
Others |
TYRP1 |
rs10809814 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G>A,C |
Others |
Others |
TYRP1 |
rs4741242 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
T>C |
Others |
Others |
TYRP1 |
rs10960751 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G>A |
Others |
Others |
TYRP1 |
rs10960752 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
G>A,C |
Others |
Others |
TYRP1 |
rs932761 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
| 19 |
Eiberg et al. |
Human genetics |
2008 |
G>A |
European |
Danish |
HERC2 |
rs12913832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
Danish |
HERC2 |
rs1129038 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
3 prime UTR |
|
|
|
|
T>A,C,G |
European |
Danish |
OCA2 |
rs4778190 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
Danish |
OCA2 |
rs1800401 |
R305W |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C |
European |
Danish |
OCA2 |
rs4778241 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>C |
European |
Danish |
HERC2 |
rs3935591 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
European |
Danish |
HERC2 |
rs2238289 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A |
European |
Danish |
HERC2 |
rs7170852 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
Danish |
HERC2 |
rs11636232 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
| 20 |
Kayser et al. |
Am J of Hum Gen. |
2008 |
T>C,G |
European |
Netherland |
HERC2 |
rs916977 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|