rs7495174
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | blue/gray eyes more likely |
| (A;G) | blue/gray eyes less likely | |
| (G;G) | blue/gray eyes less likely |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 28099092 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7495174 |
| dbSNP (classic) | rs7495174 |
| ClinGen | rs7495174 |
| ebi | rs7495174 |
| HLI | rs7495174 |
| Exac | rs7495174 |
| Gnomad | rs7495174 |
| Varsome | rs7495174 |
| LitVar | rs7495174 |
| Map | rs7495174 |
| PheGenI | rs7495174 |
| Biobank | rs7495174 |
| 1000 genomes | rs7495174 |
| hgdp | rs7495174 |
| ensembl | rs7495174 |
| geneview | rs7495174 |
| scholar | rs7495174 |
| rs7495174 | |
| pharmgkb | rs7495174 |
| gwascentral | rs7495174 |
| openSNP | rs7495174 |
| 23andMe | rs7495174 |
| SNPshot | rs7495174 |
| SNPdbe | rs7495174 |
| MSV3d | rs7495174 |
| GWAS Ctlg | rs7495174 |
| GMAF | 0.2585 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs7495174 is located in intron 1 of the OCA2 gene. The (A) allele (in dbSNP orientation) is associated with blue or green eye color in Caucasians. [PMID 17236130
].
This SNP is 1 of 3 SNPs defining a haplotype that has been studied for association with eye color. The full details on the correspondence between the haplotype and eye color can be found on the OCA2 page.
[PMID 18252221] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
[PMID 18252222] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
[PMID 18483556] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
[PMID 18683857] Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
[PMID 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.
[PMID 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20221248] Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
[PMID 23100201] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
