|
|
|
| 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 |
| 6 |
Fargnoli et al. |
Human matation |
2003 |
G>A |
Others |
Caucasian |
MC1R |
rs779504604 |
C35Y |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
rs200050206 |
V38M |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>G |
Others |
Caucasian |
MC1R |
NA |
L44V |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
NA |
|
|
|
|
G>T |
Others |
Caucasian |
MC1R |
rs1805005 |
V60L |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
rs34090186 |
R67Q |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A |
Others |
Caucasian |
MC1R |
rs1805006 |
D84E |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
rs2228479 |
V92M |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
Caucasian |
MC1R |
rs34158934 |
T95M |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>C |
Others |
Caucasian |
MC1R |
rs33932559 |
I120T |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
rs201192930 |
V122M |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
rs11547464 |
R142H |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
Caucasian |
MC1R |
rs1805007 |
R151C |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
T>C |
Others |
Caucasian |
MC1R |
rs1110400 |
I155T |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
Caucasian |
MC1R |
rs1805008 |
R160W |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
rs885479 |
R163Q |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Others |
Caucasian |
MC1R |
rs200000734 |
R213W |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Others |
Caucasian |
MC1R |
NA |
Q233Q |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
NA |
|
|
|
|
A>G |
Others |
Caucasian |
MC1R |
rs201171524 |
K278E |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A |
Others |
Caucasian |
MC1R |
rs202197434 |
N279K |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
A>G |
Others |
Caucasian |
MC1R |
NA |
T314T |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
NA |
| 7 |
Lamason et al. |
Science |
2005 |
A>G |
Admixed |
Admixed |
SLC24A5 |
rs1426654 |
A111T |
NA |
NA |
NA |
NA |
3×10-? |
15 |
Intragenic |
|
|
|
|
A>G |
Admixed |
Admixed |
SLC24A5 |
rs1426654 |
A111T |
NA |
NA |
NA |
NA |
2×10-4 |
15 |
Intragenic |
| 8 |
Bonilla et al. |
Human Genetics |
2005 |
A>G |
Admixed |
African American |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intragenic |
| 9 |
Graf et al. |
Human mutation |
2005 |
C>G |
Others |
Caucasian |
MATP |
NA |
Phe374Leu |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
5 |
NA |
|
|
|
|
C>G |
Others |
Caucasian |
MATP |
NA |
Glu272Lys |
Skin, hair, eye color |
NA |
NA |
NA |
NA |
5 |
NA |
| 10 |
Sturm et al. |
Trend in genetics |
2006 |
C > A |
European |
European |
TYR |
rs1042602 |
Ser192Tyr |
Albino mouse coat colour |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G >A |
European |
European |
TYR |
rs1800422 |
Arg402Gln |
NA |
NA |
NA |
NA |
NA |
11 |
Intragenic |
|
|
|
|
G>A |
African |
African |
OCA2 |
rs1800401 |
R305W |
Brown coat color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
C>T |
European |
European |
OCA2 |
rs1800407 |
R419Q |
Underwhite coat color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
T>C |
Asian |
Japanese , Chinese |
OCA2 |
rs1800414 |
H591R |
Yellow coat color |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|
|
|
|
G>A |
Asian |
Japanese , Chinese |
SLC45A2 |
rs26722 |
Glu272Lys |
Slaty coat color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>C |
European |
European |
SLC45A2 |
rs16891982 |
Leu374Phe |
Silver coat color |
NA |
NA |
NA |
NA |
5 |
Intragenic |
|
|
|
|
G>A |
European |
European |
SLC24A5 |
rs1426654 |
Ala111Thr |
NA |
NA |
NA |
NA |
NA |
15 |
Intragenic |
|