|
|
|
| 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 |
| 41 |
Candille et al |
Plos One |
2012 |
C>T |
European |
European |
LCT |
rs932206 |
NA |
NA |
NA |
NA |
NA |
8.2×10?13 |
2 |
NA |
|
|
|
|
G>A,C,T |
European |
European |
LCT |
rs10868841 |
NA |
NA |
NA |
NA |
NA |
5.5×10?8 |
9 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs1667394 |
NA |
Eye color |
NA |
NA |
NA |
5.4×10?17 |
15 |
Intragenic |
|
|
|
|
A>G,T |
European |
European |
OCA2 |
rs11046263 |
NA |
NA |
NA |
NA |
NA |
3.9×10?10 |
15 |
NA |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs10793902 |
NA |
NA |
NA |
NA |
NA |
1.5×10?7 |
15 |
NA |
|
|
|
|
C>T |
European |
European |
SCIN |
rs702477 |
NA |
Eye color |
NA |
NA |
NA |
NA |
7 |
Intragenic |
|
|
|
|
C>T |
European |
European |
HERC2 |
rs8039195 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>C |
European |
European |
SCIN |
rs886890 |
NA |
Eye color |
NA |
NA |
NA |
NA |
7 |
Intragenic |
|
|
|
|
T>G |
European |
European |
HERC2 |
rs1635168 |
NA |
NA |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
European |
European |
FLNB |
rs9809315 |
NA |
Skin color |
NA |
NA |
NA |
NA |
3 |
Intragenic |
|
|
|
|
A>G |
European |
European |
FLNB |
rs2033739 |
NA |
Skin color |
NA |
NA |
NA |
NA |
3 |
Intragenic |
|
|
|
|
C>T |
European |
European |
GTF2H5, TULP4 |
rs262825 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
| 42 |
Mukherjee et al. |
Journal of Genetics |
2013 |
C>G |
South Asian |
Indian |
SLC45A2 |
rs16891982 |
L374F |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
SLC45A2 |
rs26722 |
E272K |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A |
South Asian |
Indian |
SLC24A5 |
rs1426654 |
A111T |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
South Asian |
Indian |
MC1R |
rs885479 |
R163Q |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
TYRP1 |
rs2733832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Downstream |
| 43 |
Beleza et al. |
Plos Genetics |
2013 |
A>G,T |
Admixed |
European African |
SLC24A5 |
rs1426654 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G,T |
Admixed |
European African |
GRM5, TYR |
rs10831496 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>A,G,T |
Admixed |
European African |
APBA2 |
rs4424881 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>C |
Admixed |
European African |
SLC45A2 |
rs35395 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A |
Admixed |
European African |
HERC2 |
rs12913832 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G |
Admixed |
European African |
SLC24A5 |
rs2470102 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
| 44 |
Jacobs et al. |
Human Genetics |
2013 |
G>T |
European |
Danish |
UGT1A8 |
rs6742078 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
C > T |
European |
Danish |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
Danish |
BNC2 |
rs10756819 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>G |
European |
Danish |
GATA3 |
rs376397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
G > A |
European |
Danish |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>G |
European |
Danish |
SLC24A4 |
rs17128291 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
A>G,T |
European |
Danish |
OCA2 |
rs7495174 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
Danish |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C |
European |
Danish |
SLC24A5 |
rs17426596 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
Danish |
MC1R |
rs1805007 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
A > G |
European |
Danish |
ASIP |
rs4911442 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
| 45 |
Walsh et al. |
Forensic science international: Genetics |
2013 |
G>A |
European |
European |
MC1R |
rs11547464 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
European |
European |
MC1R |
rs885479 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
European |
European |
MC1R |
rs1805008 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>T |
European |
European |
MC1R |
rs1805005 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A |
European |
European |
MC1R |
rs1805006 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
European |
European |
MC1R |
rs1805007 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A,C |
European |
European |
MC1R |
rs1805009 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
European |
European |
MC1R |
rs2228479 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>C |
European |
European |
MC1R |
rs1110400 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A |
European |
European |
SLC45A2 |
rs28777 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>C |
European |
European |
SLC45A2 |
rs16891982 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
European |
KITLG |
rs12821256 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
12 |
NA |
|
|
|
|
C>A,G,T |
European |
European |
EXOC2 |
rs4959270 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
NA |
|
|
|
|
C > T |
European |
European |
IRF4 |
rs12203592 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
C > A |
European |
European |
TYR |
rs1042602 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs1800407 |
R419Q |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
European |
SLC24A4 |
rs2402130 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A,C |
European |
European |
ASIP |
rs2378249 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
G > T |
European |
European |
SLC24A4 |
rs12896399 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
G > A |
European |
European |
TYR |
rs1393350 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C > A |
European |
European |
TYRP1 |
rs683 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|