|
|
|
| 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 |
| 21 |
Sulem et al. |
Nature Genetics |
2008 |
A>G |
European |
Icelandic, Dutch |
ASIP |
rs1015362 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
Nature Genetics |
|
G>T |
European |
Icelandic, Dutch |
ASIP |
rs4911414 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
Nature Genetics |
|
A>T |
European |
Icelandic, Dutch |
TPCN2 |
rs35264875 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Nature Genetics |
|
G>A |
European |
Icelandic, Dutch |
TPCN2 |
rs3829241 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Nature Genetics |
|
C>T |
European |
Icelandic, Dutch |
TYRP1 |
rs1408799 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
| 22 |
Sturm et al. |
Pigment Cell and Melanoma Research |
2009 |
T>C |
NA |
NA |
HERC2 |
rs12913832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>A |
NA |
NA |
TYR |
rs1042602 |
Ser192Ty |
Eye color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
TYR |
rs1800422 |
Arg402Gln |
Eye color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
TYR |
rs1126809 |
Arg402Gln |
Eye color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
TYR |
rs1393350 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>T |
NA |
NA |
TYRP1 |
rs1408799 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>T |
NA |
NA |
TYRP1 |
rs2733832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>A |
NA |
NA |
TYRP1 |
rs683 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
OCA2 |
rs1800401 |
Arg305Trp |
Eye color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
OCA2 |
rs1800407 |
Arg419Gln |
Eye color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
T>C |
NA |
NA |
OCA2 |
rs1800414 |
His615Arg |
Eye color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
SLC45A2 |
rs26722 |
Glu272Lys |
Eye color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
SLC45A2 |
rs16891982 |
Leu374Phe |
Eye color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
A>G |
NA |
NA |
ASIP |
rs4911442 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
A>G |
NA |
NA |
ASIP |
rs6058017 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
A>G |
NA |
NA |
ASIP |
rs1015362 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
Pigment Cell and Melanoma Research |
|
G>T |
NA |
NA |
ASIP |
rs4911414 |
NA |
Eye color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>T |
NA |
NA |
IRF4 |
rs12203592 |
NA |
Eye color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
NA |
NA |
IRF4 |
rs1540771 |
NA |
Eye color |
NA |
NA |
NA |
NA |
6 |
NA |
NA |
|
|
Pigment Cell and Melanoma Research |
|
G>T |
NA |
NA |
SLC24A4 |
rs12896399 |
NA |
Eye color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
| 23 |
Branicki et al. |
Annals of Human Genetics |
2009 |
A>G,T |
European |
European |
OCA2 |
rs7495174 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Annals of Human Genetics |
|
A>C |
European |
European |
OCA2 |
rs4778241 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Annals of Human Genetics |
|
A>C,G,T |
European |
European |
OCA2 |
rs4778138 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Annals of Human Genetics |
|
T>C,G |
European |
European |
HERC2 |
rs916977 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Annals of Human Genetics |
|
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Skin, Hair, Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
| 24 |
Nan et al. |
International Journal of Cancer |
2009 |
C>A |
Caucasian |
Caucasian |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
|
|
International Journal of Cancer |
|
G>A |
Caucasian |
Caucasian |
TYR |
rs1126809 |
Arg402Gln |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
International Journal of Cancer |
|
G>A |
Caucasian |
Caucasian |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
International Journal of Cancer |
|
C>T |
Caucasian |
Caucasian |
TYRP1 |
rs1408799 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
International Journal of Cancer |
|
G>A |
Caucasian |
Caucasian |
OCA2 |
rs1800401 |
Arg305Trp |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
International Journal of Cancer |
|
C>T |
Caucasian |
Caucasian |
OCA2 |
rs1800407 |
Arg419Gln |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
International Journal of Cancer |
|
C>G |
Caucasian |
Caucasian |
SLC45A2 |
rs13289 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
3 prime UTR |
NA |
|
|
International Journal of Cancer |
|
G>A |
Caucasian |
Caucasian |
SLC45A2 |
rs26722 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
International Journal of Cancer |
|
G>C |
Caucasian |
Caucasian |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
International Journal of Cancer |
|
T>A,C |
Caucasian |
Caucasian |
SLC24A5 |
rs17426596 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
International Journal of Cancer |
|
C>T |
Caucasian |
Caucasian |
POMC |
rs1042571 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
3 prime UTR |
NA |
|
|
International Journal of Cancer |
|
G>T |
Caucasian |
Caucasian |
ASIP |
rs4911414 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
International Journal of Cancer |
|
G>A |
Caucasian |
Caucasian |
ASIP |
rs1015362 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
International Journal of Cancer |
|
A>G |
Caucasian |
Caucasian |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
International Journal of Cancer |
|
C>T |
Caucasian |
Caucasian |
ATRN |
rs17782078 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Exonic |
Missence |
|
|
International Journal of Cancer |
|
C>T |
Caucasian |
Caucasian |
ATRN |
rs3886999 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Exonic |
Missence |
| 25 |
Jonas et al. |
BMC Genetics |
2009 |
G>A,T |
European |
Scottish, Danish |
HPS3 |
rs4681169 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
3 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>T |
European |
Scottish, Danish |
HPS3 |
rs16861514 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
3 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>C |
European |
Scottish, Danish |
HPS3 |
rs16861552 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
3 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,T |
European |
Scottish, Danish |
HPS3 |
rs6785780 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
3 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A |
European |
Scottish, Danish |
HPS3 |
rs7636389 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
3 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A |
European |
Scottish, Danish |
DTNBP1 |
rs17470454 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
6 |
Exonic |
Missence |
|
|
BMC Genetics |
|
C>T |
European |
Scottish, Danish |
TYRP1 |
rs17346161 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A |
European |
Scottish, Danish |
ERCC6 |
rs1018603 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
10 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>A,C,G |
European |
Scottish, Danish |
ERCC6 |
rs4253162 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
10 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>A,C |
European |
Scottish, Danish |
KITLG |
rs1492354 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
12 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,C,T |
European |
Scottish, Danish |
KITLG |
rs1907702 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
12 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>G |
European |
Scottish, Danish |
KITLG |
rs10777129 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
12 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>G,T |
European |
Scottish, Danish |
OCA2 |
rs7495174 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,C,T |
European |
Scottish, Danish |
OCA2 |
rs7174027 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>A,C,G |
European |
Scottish, Danish |
OCA2 |
rs12442147 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A |
European |
Scottish, Danish |
OCA2 |
rs12324648 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,C,T |
European |
Scottish, Danish |
OCA2 |
rs1470608 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,G,T |
European |
Scottish, Danish |
OCA2 |
rs3794604 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,G |
European |
Scottish, Danish |
OCA2 |
rs749846 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>T |
European |
Scottish, Danish |
OCA2 |
rs1375166 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,C,T |
European |
Scottish, Danish |
OCA2 |
rs2311470 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>G,T |
European |
Scottish, Danish |
OCA2 |
rs11858340 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>C,G |
European |
Scottish, Danish |
OCA2 |
rs6497235 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A |
European |
Scottish, Danish |
OCA2 |
rs11074306 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>A,C,G |
European |
Scottish, Danish |
OCA2 |
rs6497233 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>C,G,T |
European |
Scottish, Danish |
OCA2 |
rs17674017 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,C,T |
European |
Scottish, Danish |
OCA2 |
rs1498509 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A |
European |
Scottish, Danish |
OCA2 |
rs11631195 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,T |
European |
Scottish, Danish |
OCA2 |
rs3947367 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>G |
European |
Scottish, Danish |
OCA2 |
rs11637518 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,G,T |
European |
Scottish, Danish |
OCA2 |
rs989869 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>G,T |
European |
Scottish, Danish |
OCA2 |
rs1603784 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>C |
European |
Scottish, Danish |
MYO05 |
rs1615028 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>C |
European |
Scottish, Danish |
MYO05 |
rs1724593 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,G,T |
European |
Scottish, Danish |
MYO05 |
rs7176061 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,G,T |
European |
Scottish, Danish |
MYO05 |
rs1724625 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A,C |
European |
Scottish, Danish |
MYO05 |
rs1724630 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>G,T |
European |
Scottish, Danish |
MYO05 |
rs1632403 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>C,G,T |
European |
Scottish, Danish |
PRKAR1A |
rs2952275 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
17 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,G |
European |
Scottish, Danish |
PRKAR1A |
rs8080306 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
17 |
Intronic |
NA |
|
|
BMC Genetics |
|
A>G,T |
European |
Scottish, Danish |
GNAS |
rs2295583 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
BMC Genetics |
|
G>A |
European |
Scottish, Danish |
GNAS |
rs3730168 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
BMC Genetics |
|
T>C,G |
European |
Scottish, Danish |
GNAS |
rs919197 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>A,T |
European |
Scottish, Danish |
HPS4 |
rs9613187 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
22 |
Intronic |
NA |
|
|
BMC Genetics |
|
C>G,T |
European |
Scottish, Danish |
HPS4 |
rs17401652 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
22 |
Intronic |
NA |
|