|
|
|
| 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 |
| 61 |
Jonnalagadda et al. |
American journal of Human Biology |
2016 |
G>A |
South Asian |
Indian |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
<2.2 ×10-6 |
15 |
Intragenic |
|
|
|
|
C > A |
South Asian |
Indian |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
0.0034 |
11 |
Intragenic |
|
|
|
|
C>G |
South Asian |
Indian |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
8.58 ×10-5 |
5 |
Intragenic |
|
|
|
|
G>A |
South Asian |
Indian |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
0.4816 |
20 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
KITLG |
rs642742 |
NA |
Skin color |
NA |
NA |
NA |
0.088 |
12 |
NA |
| 62 |
Hernando et al. |
Biology of sex differences |
2016 |
C>A |
European |
Spanish |
ADAM17 |
rs12473402 |
NA |
Hair color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
ADAM17 |
rs12992105 |
NA |
Eye color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
ADAM17 |
rs4258773 |
NA |
Eye color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
Spanish |
ADAMTS20 |
rs1510521 |
NA |
Eye color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
ADAMTS20 |
rs275630 |
NA |
Eye color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
ADAMTS20 |
rs7297057 |
NA |
Eye color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
T>A |
European |
Spanish |
AP3B1 |
rs10514134 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
AP3B1 |
rs11742673 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
AP3B1 |
rs11746090 |
NA |
Eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
AP3B1 |
rs12657894 |
NA |
Eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
AP3B1 |
rs13172957 |
NA |
Eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
AP3B1 |
rs17191796 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
AP3B1 |
rs2636986 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
AP3B1 |
rs389110 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A,C |
European |
Spanish |
AP3B1 |
rs6453374 |
NA |
Hair color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
AP3D1 |
rs10413398 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
G>A,C |
European |
Spanish |
AP3D1 |
rs17604954 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
AP3D1 |
rs7256735 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
ASIP |
rs819133 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
BCL2 |
rs1462129 |
NA |
Hair color |
NA |
NA |
NA |
NA |
18 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
BCL2 |
rs1564483 |
NA |
Hair color |
NA |
NA |
NA |
NA |
18 |
3 prime UTR |
|
|
|
|
G>A |
European |
Spanish |
BCL2 |
rs949037 |
NA |
Hair color |
NA |
NA |
NA |
NA |
18 |
Intragenic |
|
|
|
|
A>C,G |
European |
Spanish |
BCL2A1 |
rs11636338 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,G |
European |
Spanish |
BCL2A1 |
rs17215263 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>C |
European |
Spanish |
BLOC1S3 |
rs7253652 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
CDH1 |
rs1801552 |
NA |
Hair color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
CDK2 |
rs2069398 |
NA |
Eye color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
CDKN2A |
rs2518719 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
Spanish |
CDKN2A |
rs2811712 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,C |
European |
Spanish |
CDKN2A |
rs3218020 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
CDKN2B |
rs495490 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,C |
European |
Spanish |
CNO |
rs4689527 |
NA |
Eye color |
NA |
NA |
NA |
NA |
4 |
NA |
|
|
|
|
C>T |
European |
Spanish |
CTNNBIP1 |
rs11828 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
CTNNBIP1 |
rs12128766 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
CTNNBIP1 |
rs2379107 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
CTNNBIP1 |
rs4846104 |
NA |
Eye color |
NA |
NA |
NA |
NA |
1 |
NA |
|
|
|
|
A>C,G,T |
European |
Spanish |
EDNRB, POU4F1 |
rs3818416 |
NA |
Hair color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
C>A,T |
European |
Spanish |
F2RL1 |
rs2243010 |
NA |
Eye color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
Spanish |
GNA11 |
rs10407783 |
NA |
Eye color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
GNA11 |
rs2238625 |
NA |
Hair color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
Spanish |
GNA11 |
rs308039 |
NA |
Hair color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
GNA11 |
rs3786947 |
NA |
Hair color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
Spanish |
GNA11 |
rs404632 |
NA |
Eye color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
Spanish |
GNAQ |
rs10781468 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>T |
European |
Spanish |
GNAQ |
rs17786974 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
GNAQ |
rs2296937 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
GNAQ |
rs3780302 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
C>A,T |
European |
Spanish |
GNAQ |
rs3858119 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
3 prime UTR |
|
|
|
|
C>T |
European |
Spanish |
GNAQ |
rs4745672 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
GNAS |
rs12625436 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>C,G,T |
European |
Spanish |
GNAS |
rs13831 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
GNAS |
rs234623 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
T>C |
European |
Spanish |
GNAS |
rs6026561 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>C |
European |
Spanish |
GNAS |
rs6092704 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
GNAS |
rs6123832 |
NA |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
GA,C |
European |
Spanish |
GPR143 |
rs2521667 |
NA |
Hair color |
NA |
NA |
NA |
NA |
X |
Intragenic |
|
|
|
|
A>C,G |
European |
Spanish |
HPS1 |
rs1061135 |
NA |
Hair color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
HPS1 |
rs1739 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
Spanish |
HPS1 |
rs1886728 |
NA |
Hair color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
HPS1 |
rs7921146 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
C>G,T |
European |
Spanish |
HPS4 |
rs17401652 |
NA |
Eye color |
NA |
NA |
NA |
NA |
22 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
HPS4 |
rs3747129 |
NA |
Skin color |
NA |
NA |
NA |
NA |
22 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
HPS4 |
rs9608491 |
NA |
Skin color |
NA |
NA |
NA |
NA |
22 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
HPS5 |
rs12218 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
HPS5 |
rs2049129 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>A |
European |
Spanish |
HPS5 |
rs2305564 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
HPS5 |
rs7131332 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
NA |
|
|
|
|
G>A |
European |
Spanish |
HPS6 |
rs3737243 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
HPS6 |
rs3816 |
NA |
Eye color |
NA |
NA |
NA |
NA |
10 |
3 prime UTR |
|
|
|
|
C>G |
European |
Spanish |
HPS6 |
rs6584475 |
NA |
Eye color |
NA |
NA |
NA |
NA |
10 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
HRK |
rs884378 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
KIT |
rs1008658 |
NA |
Skin color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
KIT |
rs13135792 |
NA |
Hair color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
KIT |
rs2237025 |
NA |
Hair color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
KIT |
rs2298976 |
NA |
Skin color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
G>T |
European |
Spanish |
KIT |
rs4864920 |
NA |
Eye color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
KIT |
rs6554198 |
NA |
Hair color |
NA |
NA |
NA |
NA |
4 |
Upstream |
|
|
|
|
C>G,T |
European |
Spanish |
KIT |
rs759083 |
NA |
Hair color |
NA |
NA |
NA |
NA |
4 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
KITLG |
rs10858753 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
LYST |
rs6429238 |
NA |
Eye color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
LYST |
rs6699717 |
NA |
Eye color |
NA |
NA |
NA |
NA |
1 |
NA |
|
|
|
|
C>T |
European |
Spanish |
LYST |
rs7541057 |
NA |
Eye color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
MCAM |
rs2249466 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
MCAM |
rs2511837 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Downstream |
|
|
|
|
G>A,C |
European |
Spanish |
MCAM |
rs6589732 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>A,T |
European |
Spanish |
MCOLN3 |
rs10782537 |
NA |
Skin color |
NA |
NA |
NA |
NA |
1 |
3 prime UTR |
|
|
|
|
C>T |
European |
Spanish |
MCOLN3 |
rs12030837 |
NA |
Eye color |
NA |
NA |
NA |
NA |
1 |
NA |
|
|
|
|
C>A |
European |
Spanish |
MCOLN3 |
rs12735211 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
MCOLN3 |
rs2304641 |
NA |
Skin color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
MCOLN3 |
rs6674050 |
NA |
Eye, Hair color |
NA |
NA |
NA |
NA |
1 |
Upstream |
|
|
|
|
C>T |
European |
Spanish |
MITF |
rs11128152 |
NA |
Eye color |
NA |
NA |
NA |
NA |
3 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
Spanish |
MLANA |
rs1056796 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
MLANA |
rs10758717 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>C,A,T |
European |
Spanish |
MLANA |
rs2150702 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
MLANA |
rs7872509 |
NA |
Hair color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
MLPH |
rs10173589 |
NA |
Hair color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
G>C,A,T |
European |
Spanish |
MLPH |
rs13383648 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
A>G,T,C |
European |
Spanish |
MUTED |
rs2743989 |
NA |
Hair color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
MUTED |
rs2748376 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
Spanish |
MUTED |
rs2815155 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
MYO7A |
rs762667 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>C |
European |
Spanish |
MYO7A |
rs948970 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
NF1 |
rs1013948 |
NA |
Hair color |
NA |
NA |
NA |
NA |
17 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
NF1 |
rs10438801 |
NA |
Skin color |
NA |
NA |
NA |
NA |
17 |
Intragenic |
|
|
|
|
C>G,A,T |
European |
Spanish |
NF1 |
rs2953016 |
NA |
Hair color |
NA |
NA |
NA |
NA |
17 |
Intragenic |
|
|
|
|
G>A |
European |
Spanish |
NRAS |
rs14804 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
3 Prime UTR |
|
|
|
|
A>G,T |
European |
Spanish |
PAX3 |
rs12623857 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
PAX3 |
rs16863657 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
C>A,T |
European |
Spanish |
PLDN |
rs12909221 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G |
European |
Spanish |
POMC |
rs934778 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
G>C,A,T |
European |
Spanish |
PRKAR1A |
rs8066131 |
NA |
Eye color |
NA |
NA |
NA |
NA |
17 |
Intragenic |
|
|
|
|
C>G |
European |
Spanish |
PTCH2 |
rs3795719 |
NA |
Skin color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
A>C,G |
European |
Spanish |
RAB27A |
rs11071175 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
RAB27A |
rs17238192 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
RAB27A |
rs7167572 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A,T |
European |
Spanish |
RAB27A |
rs7496857 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A |
European |
Spanish |
RAB38 |
rs1027027 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>A,T |
European |
Spanish |
RAB38 |
rs9666730 |
NA |
Hair color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
RABGGTA |
rs3940231 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
Spanish |
RGS1 |
rs1359062 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
|
|
|
|
T>C,G |
European |
Spanish |
RGS20 |
rs10958392 |
NA |
Hair color |
NA |
NA |
NA |
NA |
8 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
RGS20 |
rs11783925 |
NA |
Eye color |
NA |
NA |
NA |
NA |
8 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
Spanish |
RGS20 |
rs6981243 |
NA |
Skin color |
NA |
NA |
NA |
NA |
8 |
Intragenic |
|
|
|
|
G>A,T |
European |
Spanish |
RGS20 |
rs7824575 |
NA |
Hair color |
NA |
NA |
NA |
NA |
8 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
SLC45A2 |
rs35414 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
A>C,G,T |
European |
Spanish |
SLC45A2 |
rs35415 |
NA |
Hair, skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
Spanish |
SNAI2 |
rs1992375 |
NA |
Skin color |
NA |
NA |
NA |
NA |
8 |
Intragenic |
|
|
|
|
T>C |
European |
Spanish |
SNAI2 |
rs2735455 |
NA |
Skin color |
NA |
NA |
NA |
NA |
8 |
Downstream |
|
|
|
|
G>T |
European |
Spanish |
SNX10 |
rs1406754 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
Spanish |
SNX10 |
rs2699808 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
Intragenic |
|
|
|
|
A>G |
European |
Spanish |
SOX11 |
rs17362772 |
NA |
Hair color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
T>A,G |
European |
Spanish |
SOX11 |
rs6432221 |
NA |
Eye color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
A>G,T |
European |
Spanish |
SOX4 |
rs9368326 |
NA |
Eye, skin color |
NA |
NA |
NA |
NA |
6 |
NA |
|
|
|
|
C > A |
European |
Spanish |
TYR |
rs1042602 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>A,C |
European |
Spanish |
TYR |
rs12270717 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
European |
Spanish |
TYR |
rs17793678 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>G,T |
European |
Spanish |
TYR |
rs2186640 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>C,T |
European |
Spanish |
TYR |
rs5021654 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Upstream |
|
|
|
|
A>C,G,T |
European |
Spanish |
TYRP1 |
rs10809828 |
NA |
Eye color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
C>A,G |
European |
Spanish |
WNT3A |
rs708122 |
NA |
Hair color |
NA |
NA |
NA |
NA |
1 |
Intragenic |
| 63 |
Mishra et al. |
Journal of Investigative Dermatology |
2017 |
A>G,T |
South Asian |
Indian |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
4.493 x10-7 |
15 |
Intragenic |
|
|
|
|
A>C,G |
South Asian |
Indian |
SLC24A5 |
rs2470102 |
NA |
Skin color |
NA |
NA |
NA |
5.79 x 10-7 |
15 |
Intragenic |
| 64 |
Sarkar et al. |
American journal of Human Biology |
2017 |
C>G |
South Asian |
Indian |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
SLC45A2 |
rs26722 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>G |
South Asian |
Indian |
SLC45A2 |
rs13289 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
3 prime UTR |
|
|
|
|
C>T |
South Asian |
Indian |
SLC45A2 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
TYRP1 |
rs1408799 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
C > A |
South Asian |
Indian |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
TYR |
rs12295166 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G > A |
South Asian |
Indian |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
TYR |
rs1126809 |
R402Q |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
DCT |
rs2031526 |
NA |
Skin color |
NA |
NA |
NA |
NA |
13 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
OCA2 |
rs1800407 |
R419Q |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
OCA2 |
rs1800404 |
NA |
Skin color |
NA |
NA |
NA |
0.002 |
15 |
Intragenic |
|
|
|
|
G>A |
South Asian |
Indian |
OCA2 |
rs1800401 |
R305W |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
OCA2 |
rs4778231 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
OCA2 |
rs1375164 |
NA |
Skin color |
NA |
NA |
NA |
0.001 |
15 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
OCA2 |
rs7495174 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
HERC2 |
rs1291383 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
SLC24A5 |
rs2924566 |
NA |
Skin color |
NA |
NA |
NA |
2.24E-08 |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
SLC24A5 |
rs4775730 |
NA |
Skin color |
NA |
NA |
NA |
1.41E-10 |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
SLC24A5 |
rs1742659 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G |
South Asian |
Indian |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
5.12E-09 |
15 |
Intragenic |
|
|
|
|
A>T |
South Asian |
Indian |
MYEF2 |
rs11070627 |
NA |
Skin color |
NA |
NA |
NA |
1.13E-12 |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
CTXN2 |
rs12913316 |
NA |
Skin color |
NA |
NA |
NA |
8.33E-13 |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
DUT |
rs11637235 |
NA |
Skin color |
NA |
NA |
NA |
1.63E-10 |
15 |
Intragenic |
|
|
|
|
G>T |
South Asian |
Indian |
CEP152 |
rs8041414 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
ATRN |
rs17782078 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
C>T |
South Asian |
Indian |
ATRN |
rs3886999 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
G>T |
South Asian |
Indian |
ASIP |
rs4911414 |
NA |
Skin color |
NA |
NA |
NA |
0.002 |
20 |
NA |
|
|
|
|
A>G |
South Asian |
Indian |
ASIP |
rs1015362 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
C>G |
South Asian |
Indian |
ASIP |
rs6119471 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
| 65 |
Crawford et al. |
Science |
2017 |
T>C |
African |
African |
CTXN2 |
rs2413887 |
NA |
Skin color |
NA |
NA |
NA |
4.9 × 10?62 |
15 |
Intragenic |
|
|
|
|
G>A |
African |
African |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
5.5 × 10?62 |
15 |
Intragenic |
|
|
|
|
G>A |
African |
African |
SLC24A5 |
rs1834640 |
NA |
Skin color |
NA |
NA |
NA |
3.2 × 10?61 |
15 |
NA |
|
|
|
|
G>A |
African |
African |
SLC24A5 |
rs2675345 |
NA |
Skin color |
NA |
NA |
NA |
6.7 × 10?61 |
15 |
Intragenic |
|
|
|
|
G>A |
African |
African |
MYEF2 |
rs8028919 |
NA |
Skin color |
NA |
NA |
NA |
5.0 × 10?32 |
15 |
Intragenic |
|
|
|
|
C>T |
African |
Nilo Saharan |
MFSD12 |
rs10424065 |
NA |
Skin color |
NA |
NA |
NA |
5.1 × 10?20 |
19 |
Intragenic |
|
|
|
|
C>T |
African |
African |
MFSD12 |
rs56203814 |
NA |
Skin color |
NA |
NA |
NA |
3.6 × 10?18 |
19 |
Intragenic |
|
|
|
|
C>T |
African |
African |
HMG20B |
s111317445 |
NA |
Skin color |
NA |
NA |
NA |
1.7 × 10?16 |
19 |
NA |
|
|
|
|
C>T |
African |
African |
MFSD12 |
rs10414812 |
NA |
Skin color |
NA |
NA |
NA |
3.8 × 10?16 |
19 |
Intragenic |
|
|
|
|
T>C |
African |
African |
HMG20B |
rs112332856 |
NA |
Skin color |
NA |
NA |
NA |
3.8 × 10?16 |
19 |
NA |
|
|
|
|
G>A |
African |
African |
MFSD12 |
rs6510760 |
NA |
Skin color |
NA |
NA |
NA |
6.5 × 10?15 |
19 |
Intragenic |
|
|
|
|
T>G |
African |
African |
MFSD12 |
rs73527942 |
NA |
Skin color |
NA |
NA |
NA |
4.8 × 10?14 |
19 |
Intragenic |
|
|
|
|
C>T |
African |
African |
MFSD12 |
rs142317543 |
NA |
Skin color |
NA |
NA |
NA |
5.0 × 10?14 |
19 |
Intragenic |
|
|
|
|
C>T |
African |
African |
HMG20B |
rs7254463 |
NA |
Skin color |
NA |
NA |
NA |
9.0 × 10?9 |
19 |
NA |
|
|
|
|
C>T |
African |
African |
HMG20B |
rs7246261 |
NA |
Skin color |
NA |
NA |
NA |
1.1 × 10?8 |
19 |
NA |
|
|
|
|
T>C |
African |
African |
HMG20B |
rs6510761 |
NA |
Skin color |
NA |
NA |
NA |
2.2 × 10?8 |
19 |
NA |
|
|
|
|
A>T |
African |
Nilo Saharan |
TMEM138 |
rs7948623 |
NA |
Skin color |
NA |
NA |
NA |
2.2 × 10?11 |
11 |
Intragenic |
|
|
|
|
C>T |
African |
African |
TMEM216 |
rs4453253 |
NA |
Skin color |
NA |
NA |
NA |
5.4 × 10?11 |
11 |
NA |
|
|
|
|
C>T |
African |
African |
TMEM216 |
rs4939520 |
NA |
Skin color |
NA |
NA |
NA |
1.4 × 10?10 |
11 |
NA |
|
|
|
|
C>T |
African |
African |
TMEM138 |
rs4939519 |
NA |
Skin color |
NA |
NA |
NA |
2.8 × 10?10 |
11 |
Intragenic |
|
|
|
|
C>T |
African |
African |
TKFC |
rs2512809 |
NA |
Skin color |
NA |
NA |
NA |
7.4 × 10?10 |
11 |
Intragenic |
|
|
|
|
T>C |
African |
African |
VWCE |
rs11230658 |
NA |
Skin color |
NA |
NA |
NA |
9.4 × 10?10 |
11 |
Intragenic |
|
|
|
|
G>A |
African |
African |
DDB1 |
rs12289370 |
NA |
Skin color |
NA |
NA |
NA |
1.3 × 10?9 |
11 |
Intragenic |
|
|
|
|
C>A |
African |
African |
TMEM138 |
rs1377457 |
NA |
Skin color |
NA |
NA |
NA |
1.5 × 10?9 |
11 |
Downstream |
|
|
|
|
G>T |
African |
African |
DDB1 |
rs7934735 |
NA |
Skin color |
NA |
NA |
NA |
1.5 × 10?9 |
11 |
Intragenic |
|
|
|
|
G>A |
African |
African |
TMEM138 |
rs7394502 |
NA |
Skin color |
NA |
NA |
NA |
1.6 × 10?9 |
11 |
NA |
|
|
|
|
C>T |
African |
African |
TMEM138 |
rs10897155 |
NA |
Skin color |
NA |
NA |
NA |
1.6 × 10?9 |
11 |
Intragenic |
|
|
|
|
G>A |
African |
African |
TMEM138 |
rs11230678 |
NA |
Skin color |
NA |
NA |
NA |
1.7 × 10?9 |
11 |
Intragenic |
|
|
|
|
NA |
African |
African |
TKFC |
rs148172827 |
NA |
Skin color |
NA |
NA |
NA |
1.8 × 10?9 |
11 |
NA |
|
|
|
|
C>T |
African |
African |
TMEM138 |
rs1377458 |
NA |
Skin color |
NA |
NA |
NA |
2.1 × 10?9 |
11 |
Downstream |
|
|
|
|
C>T |
African |
sub Saharan |
DDB1 |
rs11230664 |
NA |
Skin color |
NA |
NA |
NA |
2.1 × 10?9 |
11 |
Intragenic |
|
|
|
|
G>A |
African |
African |
CYB561A3 |
rs7951574 |
NA |
Skin color |
NA |
NA |
NA |
2.8 × 10?9 |
11 |
Intragenic |
|
|
|
|
A>C |
African |
African |
VWCE |
rs1108769 |
NA |
Skin color |
NA |
NA |
NA |
3.0 × 10?9 |
11 |
Intragenic |
|
|
|
|
T>C |
African |
African |
TMEM138 |
rs57265008 |
NA |
Skin color |
NA |
NA |
NA |
3.7 × 10?9 |
11 |
Intragenic |
|
|
|
|
G>A |
African |
African |
SDHAF2 |
rs3017597 |
NA |
Skin color |
NA |
NA |
NA |
5.4 × 10?9 |
11 |
NA |
|
|
|
|
T>C |
African |
African |
DDB1 |
rs12275843 |
NA |
Skin color |
NA |
NA |
NA |
5.5 × 10?9 |
11 |
Intragenic |
|
|
|
|
G>C |
African |
African |
VWCE |
rs73490303 |
NA |
Skin color |
NA |
NA |
NA |
7.2 × 10?9 |
11 |
Intragenic |
|
|
|
|
A>G |
African |
African |
PGA5 |
rs653173 |
NA |
Skin color |
NA |
NA |
NA |
8.2× 10?9 |
11 |
3 prime UTR |
|
|
|
|
G>T |
African |
African |
VWCE |
rs10897150 |
NA |
Skin color |
NA |
NA |
NA |
8.8 × 10?9 |
11 |
Upstream |
|
|
|
|
G>A |
African |
African |
TKFC |
rs2260655 |
NA |
Skin color |
NA |
NA |
NA |
9.0 × 10?9 |
11 |
Intragenic |
|
|
|
|
C>A |
African |
African |
TMEM216 |
rs12791961 |
NA |
Skin color |
NA |
NA |
NA |
9.7 × 10?9 |
11 |
NA |
|
|
|
|
T>C |
African |
African |
DDB1 |
rs7120594 |
NA |
Skin color |
NA |
NA |
NA |
1.2 × 10?8 |
11 |
Intragenic |
|
|
|
|
G>C |
African |
African |
VWCE |
rs9704187 |
NA |
Skin color |
NA |
NA |
NA |
1.3 × 10?8 |
11 |
Intragenic |
|
|
|
|
G>C |
African |
African |
VWCE |
rs2513329 |
NA |
Skin color |
NA |
NA |
NA |
1.6 × 10?8 |
11 |
Intragenic |
|
|
|
|
T>A |
African |
African |
VWCE |
rs2001746 |
NA |
Skin color |
NA |
NA |
NA |
1.7 × 10?8 |
11 |
Intragenic |
|
|
|
|
C>T |
African |
Ethiopian |
TKFC |
rs2305465 |
NA |
Skin color |
NA |
NA |
NA |
1.8 × 10?8 |
11 |
Intragenic |
|
|
|
|
C>T |
African |
Ethiopian |
TKFC |
rs2305465 |
NA |
Skin color |
NA |
NA |
NA |
1.8 × 10?8 |
11 |
Intragenic |
|
|
|
|
C>T |
African |
African |
HERC2 |
rs4932620 |
NA |
Skin color |
NA |
NA |
NA |
3.2 × 10?9 |
15 |
Intragenic |
|
|
|
|
C>T |
African |
African |
HERC2 |
rs1667393 |
NA |
Skin color |
NA |
NA |
NA |
6.3 × 10?9 |
15 |
Intragenic |
|
|
|
|
C>T |
African |
African |
HERC2 |
rs1635167 |
NA |
Skin color |
NA |
NA |
NA |
8.9 × 10?9 |
15 |
Intragenic |
|
|
|
|
A>G |
African |
African |
HERC2 |
rs2905952 |
NA |
Skin color |
NA |
NA |
NA |
9.0 × 10?9 |
15 |
Intragenic |
|
|
|
|
T>G |
African |
African |
HERC2 |
rs12915877 |
NA |
Skin color |
NA |
NA |
NA |
1.1 × 10?8 |
15 |
Intragenic |
|
|
|
|
G>A |
African |
African |
HERC2 |
rs4932618 |
NA |
Skin color |
NA |
NA |
NA |
1.6 × 10?8 |
15 |
Intragenic |
|
|
|
|
C>T |
African |
African |
OCA2 |
rs1800404 |
NA |
Skin color |
NA |
NA |
NA |
1.6 × 10?8 |
15 |
Intragenic |
|
|
|
|
G>A |
African |
African |
OCA2 |
rs1868333 |
NA |
Skin color |
NA |
NA |
NA |
2.2 × 10?8 |
15 |
Intragenic |
|
|
|
|
A>G |
African |
African |
OCA2 |
rs735066 |
NA |
Skin color |
NA |
NA |
NA |
3.5 × 10?8 |
15 |
Intragenic |
|