Rs7495174

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Orientationplus
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
ReferenceGRCh38 38.1/141
Chromosome15
Position28099092
GeneOCA2
is asnp
is mentioned by
dbSNPrs7495174
Exacrs7495174
PheGenIrs7495174
nextbiors7495174
hapmaprs7495174
1000 genomesrs7495174
hgdprs7495174
ensemblrs7495174
gopubmedrs7495174
geneviewrs7495174
scholarrs7495174
googlers7495174
pharmgkbrs7495174
gwascentralrs7495174
openSNPrs7495174
23andMers7495174
23andMe allrs7495174
SNP Nexus

SNPshotrs7495174
SNPdbers7495174
MSV3drs7495174
GMAF0.2585
? (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 17236130OA-icon.png].

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.

OMIM227220
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
Variant
Relatedalso
OMIM611409
DescOCA2 GENE
Variant
Relatedalso


OMIM611409
Desc
Variant0013
Relatedalso
[PMID 18252221OA-icon.png] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.


[PMID 18252222OA-icon.png] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.


[PMID 18483556OA-icon.png] 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 19340012OA-icon.png] 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 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.


[PMID 20221248OA-icon.png] Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.


GET Evidence
rs7495174
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.1875
summary



[PMID 23100201OA-icon.png] 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