|
|
|
| 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 |
| 86 |
Rocha et al. |
Journal of Molecular Evolution |
2020 |
A>C |
European |
European |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>C,G,T |
European |
European |
GRM5, TYR |
rs10831496 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>G,T |
European |
European |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intragenic |
|
|
|
|
A>G |
European |
European |
TYRP1 |
rs115075138 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
C>A,T |
European |
European |
OCA2 |
rs1800404 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C |
European |
European |
OCA2 |
rs1800414 |
H591R |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
European |
OCA2 |
rs74653330 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>G,T |
European |
European |
OCA2 |
rs7495174 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
European |
HERC2 |
rs4932620 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C |
European |
European |
HERC2 |
rs649721 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
T>A,C,G |
European |
European |
HERC2 |
rs442881 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
NA |
|
|
|
|
A>G,T |
European |
European |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A,G |
European |
European |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
C>A,G,T |
European |
European |
MC1R |
rs1805007 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
NA |
European |
European |
MC1R |
rs42687448 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
NA |
|
|
|
|
A>G |
European |
European |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
T>A,G |
European |
European |
ASIP |
rs4911414 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
|
|
|
|
A>G |
European |
European |
ASIP |
rs6059655 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
|
|
|
|
A>G |
European |
European |
KITLG |
rs642742 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
NA |
|
|
|
|
T>A,C,G |
European |
European |
KITLG |
rs12821256 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
NA |
|
|
|
|
C>G,T |
European |
European |
MFSD12 |
rs10424065 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
G>A,C |
European |
European |
MFSD12 |
rs6510760 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
A>G |
European |
European |
MFSD12 |
rs2240751 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
European |
DDB1 |
rs2513329 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>C |
European |
European |
DDB1 |
rs11230664 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
T>A,C,G |
European |
European |
DDB1 |
rs7948623 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OPRM1 |
rs6917661 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
3 prime UTR |
|
|
|
|
A>T |
European |
European |
EGFR |
rs12668421 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
Intragenic |
|
|
|
|
A>G |
European |
European |
BEND7, PRPF18 |
rs6602666 |
NA |
Skin color |
NA |
NA |
NA |
NA |
10 |
NA |
|
|
|
|
G>T |
European |
European |
UGT1A |
rs6742078 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
European |
BNC2 |
rs10756819 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intragenic |
|
|
|
|
G>A,C,T |
European |
European |
BNC2 |
rs12350739 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
|
|
|
|
T>G |
European |
European |
SMARCA2, VLDLR |
rs146831108 |
NA |
Skin color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
G>A,T |
European |
European |
SMARCA2, VLDLR |
rs872257 |
NA |
Skin color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
C>G |
European |
European |
SNX13 |
rs210015 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
Intragenic |
| 87 |
Andersen et al. |
International J of legal medicine |
2020 |
G>T |
South American |
Brazilian |
UGT1A |
rs6742078 |
NA |
Skin color |
NA |
NA |
NA |
2.10E-01 |
2 |
Intragenic |
|
|
|
|
C>A,G |
South American |
Brazilian |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
5.0E- 14 |
5 |
Intragenic |
|
|
|
|
C>T |
South American |
Brazilian |
SLC45A2 |
rs26722 |
NA |
Skin color |
NA |
NA |
NA |
4.70E-01 |
5 |
Intragenic |
|
|
|
|
C>G,T |
South American |
Brazilian |
SLC45A2 |
rs13289 |
NA |
Skin color |
NA |
NA |
NA |
6.30E-04 |
5 |
3 prime UTR |
|
|
|
|
C>G,T |
South American |
Brazilian |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
3.80E-01 |
6 |
Intragenic |
|
|
|
|
A>T |
South American |
Brazilian |
EGFR |
rs12668421 |
NA |
Skin color |
NA |
NA |
NA |
1.70E-01 |
7 |
Intragenic |
|
|
|
|
G>A,T |
South American |
Brazilian |
EGFR |
rs11238349 |
NA |
Skin color |
NA |
NA |
NA |
3.10E-01 |
7 |
Intragenic |
|
|
|
|
C>T |
South American |
Brazilian |
TYRP1 |
rs1408799 |
NA |
Skin color |
NA |
NA |
NA |
7.40E-02 |
9 |
NA |
|
|
|
|
G>A,C,T |
South American |
Brazilian |
BNC2 |
rs12350739 |
NA |
Skin color |
NA |
NA |
NA |
4.10E-06 |
9 |
NA |
|
|
|
|
G>A |
South American |
Brazilian |
TPCN2 |
rs3829241 |
NA |
Skin color |
NA |
NA |
NA |
1.70E-01 |
11 |
Intragenic |
|
|
|
|
G>A |
South American |
Brazilian |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
3.60E-03 |
11 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
TYR |
rs1126809 |
R402Q |
Skin color |
NA |
NA |
NA |
1.20E-02 |
11 |
Intragenic |
|
|
|
|
A>C,G,T |
South American |
Brazilian |
TYR |
rs10831496 |
NA |
Skin color |
NA |
NA |
NA |
3.20E-09 |
11 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
KITLG |
rs10777129 |
NA |
Skin color |
NA |
NA |
NA |
1.10E-08 |
12 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
DCT |
rs2031526 |
NA |
Skin color |
NA |
NA |
NA |
1.00E-01 |
13 |
Intragenic |
|
|
|
|
G>A,T |
South American |
Brazilian |
SLC24A4 |
rs12896399 |
NA |
Skin color |
NA |
NA |
NA |
1.90E-02 |
14 |
Intragenic |
|
|
|
|
G>A,C,T |
South American |
Brazilian |
SLC24A4 |
rs2402130 |
NA |
Skin color |
NA |
NA |
NA |
3.10E-03 |
14 |
Intragenic |
|
|
|
|
T>A,C |
South American |
Brazilian |
OCA2 |
rs1800414 |
H591R |
Skin color |
NA |
NA |
NA |
2.90E-01 |
15 |
Intragenic |
|
|
|
|
C>T |
South American |
Brazilian |
OCA2 |
rs1800407 |
R419Q |
Skin color |
NA |
NA |
NA |
1.70E-01 |
15 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
OCA2 |
rs1448484 |
NA |
Skin color |
NA |
NA |
NA |
6.00E-18 |
15 |
Intragenic |
|
|
|
|
G>A |
South American |
Brazilian |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
2.30E-05 |
15 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
HERC2 |
rs2238289 |
NA |
Skin color |
NA |
NA |
NA |
6.50E-06 |
15 |
Intragenic |
|
|
|
|
C>A,T |
South American |
Brazilian |
HERC2 |
rs1667394 |
NA |
Skin color |
NA |
NA |
NA |
1.10E-06 |
15 |
Intragenic |
|
|
|
|
C>A,G,T |
South American |
Brazilian |
APBA2 |
rs4424881 |
NA |
Skin color |
NA |
NA |
NA |
3.80E-14 |
15 |
Intragenic |
|
|
|
|
A>G,T |
South American |
Brazilian |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
2.90E-18 |
15 |
Intragenic |
|
|
|
|
A>C,G |
South American |
Brazilian |
SLC24A5 |
rs2470102 |
NA |
Skin color |
NA |
NA |
NA |
3.60E-21 |
15 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
DEF8 |
rs8051733 |
NA |
Skin color |
NA |
NA |
NA |
6.20E-02 |
16 |
Intragenic |
|
|
|
|
C>G,T |
South American |
Brazilian |
MFSD12 |
rs10424065 |
NA |
Skin color |
NA |
NA |
NA |
5.40E-02 |
19 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
ASIP |
rs1015362 |
NA |
Skin color |
NA |
NA |
NA |
1.00E-03 |
20 |
NA |
|
|
|
|
T>A,G |
South American |
Brazilian |
ASIP |
rs4911414 |
NA |
Skin color |
NA |
NA |
NA |
1.00E-01 |
20 |
NA |
|
|
|
|
C>A,G |
South American |
Brazilian |
ASIP |
rs6119471 |
NA |
Skin color |
NA |
NA |
NA |
7.60E-08 |
20 |
Intragenic |
|
|
|
|
T>A,C,G |
South American |
Brazilian |
ASIP |
rs2424984 |
NA |
Skin color |
NA |
NA |
NA |
5.00E-06 |
20 |
Intragenic |
|
|
|
|
A>G |
South American |
Brazilian |
RALY |
rs6059655 |
NA |
Skin color |
NA |
NA |
NA |
1.20E-02 |
20 |
Intragenic |
|
|
|
|
G>A,C |
South American |
Brazilian |
PIGU |
rs2378249 |
NA |
Skin color |
NA |
NA |
NA |
9.50E-01 |
20 |
Intragenic |
| 88 |
Bazarragchaa et al. |
Biomed research international |
2020 |
A>T |
Asian |
Mongolian, Korean, Uzbekistan |
OCA2 |
rs1545397 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
| 89 |
Bock et al. |
Plos genetics |
2021 |
C>T |
European |
European |
TPC2 |
rs2376558 |
L564P |
Hair color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
G>A |
European |
European |
TPC2 |
rs72928978 |
V219I |
Hair color |
NA |
NA |
NA |
6 x 10-48 |
NA |
Intragenic |
|
|
|
|
A>C,G |
European |
European |
TPC2 |
rs3750965 |
K376R |
Hair color |
NA |
NA |
NA |
3 x 10-7 |
NA |
Intragenic |
|
|
|
|
G>A |
European |
European |
TPC2 |
rs61746574 |
G387D |
Hair color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
A>T |
European |
European |
TPC2 |
rs35264875 |
M484L |
Hair color |
NA |
NA |
NA |
4 x 10-30 |
NA |
Intragenic |
|
|
|
|
C>T |
European |
European |
TPC2 |
rs78034812 |
S681L |
Hair color |
NA |
NA |
NA |
NA |
NA |
Intragenic |
|
|
|
|
G>A |
European |
European |
TPC2 |
rs3829241 |
G734E |
Hair color |
NA |
NA |
NA |
5 x 10-188 |
NA |
Intragenic |
| 90 |
Feng. et al |
Oxford University Press. |
2021 |
A>G,T |
African |
African |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
African |
African |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>A,T |
African |
African |
OCA2 |
rs1800404 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C,G |
African |
African |
HERC2 |
rs4932620 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
A>C,G,T |
African |
African |
HERC2 |
rs6497271 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>A,C,G |
African |
African |
DDB1 |
rs7948623 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
A>G |
African |
African |
MFSD12 |
rs2240751 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
C>A,G,T |
African |
African |
MFSD12 |
rs56203814 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|
|
|
|
C>G,T |
African |
African |
MFSD12 |
rs10424065 |
NA |
Skin color |
NA |
NA |
NA |
NA |
19 |
Intragenic |
|