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rs1800414

From SNPedia

skin pigmentation
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs1800414(A;G)
Make rs1800414(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position27951891
GeneOCA2
is asnp
is mentioned by
dbSNPrs1800414
ebirs1800414
HLIrs1800414
Exacrs1800414
Varsomers1800414
Maprs1800414
PheGenIrs1800414
hapmaprs1800414
1000 genomesrs1800414
hgdprs1800414
ensemblrs1800414
gopubmedrs1800414
geneviewrs1800414
scholarrs1800414
googlers1800414
pharmgkbrs1800414
gwascentralrs1800414
openSNPrs1800414
23andMers1800414
23andMe allrs1800414
SNP Nexus

SNPshotrs1800414
SNPdbers1800414
MSV3drs1800414
GWAS Ctlgrs1800414
GMAF0.1552
Max Magnitude0
? (A;A) (A;G) (G;G) 28

Influences appearance gnxp

10.1371/journal.pgen.1000867 associated with skin pigmentation in two samples of East Asian ancestry and it confirms previous evidence indicating that evolution towards light skin occurred, at least in part, independently in Europe and East Asia. The OCA2 gene has been under positive selection in Europe and East Asia, but different alleles have been selected in each region.

23andMe blog each rs1800414(C) was associated with a 1.3 melanin unit reduction in skin pigmentation. This SNP accounts for 9% of the variation in skin color seen in the study population.


[PMID 22065085OA-icon.png] A global view of the OCA2-HERC2 region and pigmentation


[PMID 17236130OA-icon.png] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.


[PMID 18392143OA-icon.png] Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.


[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
OCA2-H615R
aa_change His615Arg
aa_change_short H615R
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.000650678
summary Associated with lighter skin pigmentation in East Asian populations.