Rs4778241

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Orientationplus
Geno Mag Summary
(A;A) usually brown eye color
(A;C) usually brown eye color
(C;C) blue eye color if part of blue eye color haplotype
ReferenceGRCh38 38.1/141
Chromosome15
Position28093567
GeneOCA2
is asnp
is mentioned by
dbSNPrs4778241
Exacrs4778241
PheGenIrs4778241
nextbiors4778241
hapmaprs4778241
1000 genomesrs4778241
hgdprs4778241
ensemblrs4778241
gopubmedrs4778241
geneviewrs4778241
scholarrs4778241
googlers4778241
pharmgkbrs4778241
gwascentralrs4778241
openSNPrs4778241
23andMers4778241
23andMe allrs4778241
SNP Nexus

SNPshotrs4778241
SNPdbers4778241
MSV3drs4778241
Merged fromRs6497268
GMAF0.4752
Max Magnitude
? (A;A) (A;C) (C;C) 28
rs4778241 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups.[PMID 18172690]

The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows [PMID 18172690]:

rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)

OMIM227220
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
Variant
Relatedalso
OMIM611409
DescOCA2 GENE
Variant
Relatedalso
OMIM611409
Desc
Variant0013
Relatedalso
[PMID 17236130OA-icon.png] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

[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 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.