rs12520016
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | G allele associated with intermediate eye color and decreased risk of melanoma | |
| (G;T) | G allele associated with intermediate eye color and decreased risk of melanoma | |
| (T;T) | 0 | most common/normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 6767199 |
| Gene | LOC102724943 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12520016 |
| dbSNP (classic) | rs12520016 |
| ClinGen | rs12520016 |
| ebi | rs12520016 |
| HLI | rs12520016 |
| Exac | rs12520016 |
| Gnomad | rs12520016 |
| Varsome | rs12520016 |
| LitVar | rs12520016 |
| Map | rs12520016 |
| PheGenI | rs12520016 |
| Biobank | rs12520016 |
| 1000 genomes | rs12520016 |
| hgdp | rs12520016 |
| ensembl | rs12520016 |
| geneview | rs12520016 |
| scholar | rs12520016 |
| rs12520016 | |
| pharmgkb | rs12520016 |
| gwascentral | rs12520016 |
| openSNP | rs12520016 |
| 23andMe | rs12520016 |
| SNPshot | rs12520016 |
| SNPdbe | rs12520016 |
| MSV3d | rs12520016 |
| GWAS Ctlg | rs12520016 |
| GMAF | 0.04408 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 23548203 ]
|
| Trait | Eye color |
| Title | Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. |
| Risk Allele | G |
| P-val | 9E-7 |
| Odds Ratio | .42 [0.26-0.58] unit increase |
The 'G' allele is associated with a more "intermediate" (Green) eye color and lower risk of melanoma, compared to the 'T' allele. [PMID 23548203]
