|
|
|
| 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 |
| 1 |
Box et al. |
Human molecular genetics |
1997 |
G>A,C |
Asian |
Caucasian , Chinese |
MC1R |
rs2228479 |
Val92Met |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A,G,T |
Asian |
Caucasian , Chinese |
MC1R |
rs1805007 |
Arg151Cys |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A,C |
Asian |
Caucasian , Chinese |
MC1R |
rs1805009 |
Asp294His |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Asian |
Caucasian , Chinese |
MC1R |
rs1805008 |
Arg160Trp |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>T |
Asian |
Caucasian , Chinese |
MC1R |
rs1805005 |
Val60Leu |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
| 2 |
Voicey et al. |
Pigment cell res |
2001 |
C>T |
Asian |
Caucasian , Asian |
MC1R |
rs1805008 |
R160W |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>A,G,T |
Asian |
Caucasian , Asian |
MC1R |
rs1805007 |
R151C |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G > A,C |
Asian |
Caucasian , Asian |
MC1R |
rs2228479 |
V92M |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>T |
Asian |
Caucasian , Asian |
MC1R |
rs1805005 |
V60L |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A,C |
Asian |
Caucasian , Asian |
MC1R |
rs1805009 |
D294H |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
| 3 |
Akey et al. |
Human Genetics |
2001 |
G>A |
Asian |
Tibetan |
MC1R |
rs34090186 |
Arg67Gln |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Asian |
Tibetan |
MC1R |
rs2228479 |
Val92Met |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
| 4 |
Shi et al. |
Cell research |
2001 |
G>T |
Asian |
Chinese |
MC1R |
rs1805005 |
Val60Leu |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G > A |
Asian |
Chinese |
MC1R |
rs34090186 |
Arg67Gln |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G > A,C |
Asian |
Chinese |
MC1R |
rs2228479 |
Val92Met |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
G>A |
Asian |
Chinese |
MC1R |
rs885479 |
Arg163Gln |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
|
|
|
|
C>T |
Asian |
Chinese |
MC1R |
rs752932359 |
Ala299Val |
Hair, skin color |
NA |
NA |
NA |
NA |
16 |
Intragenic |
| 5 |
Rebbeck et al. |
American association of cancer research |
2002 |
NA |
Others |
Caucasian |
P gene |
NA |
Arg305Trp |
Eye color |
NA |
NA |
NA |
0.002 |
NA |
NA |
|
|
|
|
NA |
Others |
Caucasian |
P gene |
NA |
Arg419Gln |
Eye color |
NA |
NA |
NA |
0.001 |
NA |
NA |
|