|
|
|
| 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 |
| 56 |
Edwards et al. |
Pigment Cell and Melanoma Research |
2015 |
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>T |
European |
European |
OCA2 |
rs1800407 |
Arg419Gln |
Eye, Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
G>A,T |
European |
European |
SLC24A4 |
rs12896399 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>A,G |
European |
European |
SLC45A2 |
rs16891982 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Pigment Cell and Melanoma Research |
|
G>A |
European |
European |
TYR |
rs1393350 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>G,T |
European |
European |
IRF4 |
rs12203592 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>T |
European |
European |
TYRP1 |
rs1408799 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
Pigment Cell and Melanoma Research |
|
C>A,G,T |
European |
European |
NPLOC4 |
rs9894429 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
17 |
Exonic |
Synonymous |
|
|
Pigment Cell and Melanoma Research |
|
G>A,C,T |
European |
European |
LYST |
rs3768056 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
1 |
Intronic |
NA |
|
|
Pigment Cell and Melanoma Research |
|
A>G |
European |
European |
ASIP |
rs6058017 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
| 57 |
Saternus et al. |
Endocrinology |
2015 |
T>G |
Caucasian |
Caucasian |
TYR |
rs10830253 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Endocrinology |
|
A>G |
Caucasian |
Caucasian |
TYR |
rs7129973 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Endocrinology |
|
T>A,C,G |
Caucasian |
Caucasian |
TYR |
rs4121401 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Endocrinology |
|
T>A,C |
Caucasian |
Caucasian |
TYR |
rs2000553 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Endocrinology |
|
A>C,G |
Caucasian |
Caucasian |
PRKACG |
rs12001326 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Exonic |
NA |
|
|
Endocrinology |
|
C>A,G |
Caucasian |
Caucasian |
MITF |
rs13078182 |
NA |
Skin color |
NA |
NA |
NA |
NA |
3 |
NA |
NA |
|
|
Endocrinology |
|
A>C,G |
Caucasian |
Caucasian |
MITF |
rs17006281 |
NA |
Skin color |
NA |
NA |
NA |
NA |
3 |
NA |
NA |
| 58 |
Murray et al. |
Human Genome Variation |
2015 |
T>A,C |
East Asian |
East Asian |
OCA2 |
rs1800414 |
His615Arg |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Human Genome Variation |
|
G>A |
East Asian |
East Asian |
OCA2 |
rs74653330 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
| 59 |
Dario et al. |
International Journal of Legal Medicine |
2015 |
G>A |
European |
Portuguese |
HERC2 |
rs12913832 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>T |
European |
Portuguese |
OCA2 |
rs1800407 |
Arg419Gln |
Eye, Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
International Journal of Legal Medicine |
|
G>A,T |
European |
Portuguese |
SLC24A4 |
rs12896399 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>A,G |
European |
Portuguese |
SLC45A2 |
rs16891982 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
International Journal of Legal Medicine |
|
G>A |
European |
Portuguese |
TYR |
rs1393350 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>G,T |
European |
Portuguese |
IRF4 |
rs12203592 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>T |
European |
Portuguese |
HERC2 |
rs1129038 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
15 |
3 prime UTR |
NA |
|
|
International Journal of Legal Medicine |
|
T>A,C,G |
European |
Portuguese |
ASIP |
rs2424984 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
A>G,T |
European |
Portuguese |
SLC24A5 |
rs1426654 |
NA |
Eye, Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
NA |
| 60 |
Sochtig et al. |
International Journal of Legal Medicine |
2015 |
C>A |
European |
European |
MC1R |
rs1805006 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
International Journal of Legal Medicine |
|
C>A,G,T |
European |
European |
EXOC2 |
rs4959270 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
NA |
NA |
|
|
International Journal of Legal Medicine |
|
A>C,G,T |
European |
European |
EIF6 |
rs619865 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
A>G |
European |
European |
KITLG |
rs642742 |
NA |
Hair color |
NA |
NA |
NA |
NA |
12 |
NA |
NA |
|
|
International Journal of Legal Medicine |
|
T>C |
European |
European |
C20orf71 |
rs17305657 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
T>C |
European |
European |
SLC24A4 |
rs4904868 |
NA |
Hair color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
T>A,C,G |
European |
European |
ASIP |
rs2424984 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>A,G |
European |
European |
ASIP |
rs6119471 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>G |
European |
European |
FANCA |
rs12931267 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
C>A |
European |
European |
SLC45A2 |
rs28777 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
G>A |
European |
European |
MC1R |
rs885479 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
International Journal of Legal Medicine |
|
T>C |
European |
European |
MC1R |
rs1110400 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
International Journal of Legal Medicine |
|
G>A |
European |
European |
MC1R |
rs2228479 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
International Journal of Legal Medicine |
|
G>A,C,T |
European |
European |
OCA2 |
rs7174027 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
G>A |
European |
European |
MC1R |
rs11547464 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
International Journal of Legal Medicine |
|
A>G |
European |
European |
OCA2 |
rs1448484 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
G>A,C,T |
European |
European |
SLC24A4 |
rs2402130 |
NA |
Hair color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
A>G |
European |
European |
SLC24A4 |
rs4904864 |
NA |
Hair color |
NA |
NA |
NA |
NA |
14 |
NA |
NA |
|
|
International Journal of Legal Medicine |
|
A>T |
European |
European |
OCA2 |
rs1545397 |
NA |
Hair color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
International Journal of Legal Medicine |
|
T>A,C |
European |
European |
OCA2 |
rs1800414 |
His615Arg |
Hair color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
International Journal of Legal Medicine |
|
G>A,C |
European |
European |
PIGU |
rs2378249 |
NA |
Hair color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
|