Promethease 0.1.82

Rs4778241

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is asnp
is mentioned by
dbSNPrs4778241
hapmaprs4778241
hgdprs4778241
ensemblrs4778241
gopubmedrs4778241
scholarrs4778241
googlers4778241
pharmgkbrs4778241
hgvbaseg2prs4778241
medrefsnprs4778241
23andMers4778241
SNP Nexus

GeneOCA2
Chromosome15
Orientationplus
Position26012308
GenotypeEffect
rs4778241(A;A)usually brown eye color
rs4778241(A;C)usually brown eye color
rs4778241(C;C)blue eye color if part of blue eye color haplotype


Genotypes Magnitude Summary
Rs4778241(A;A) usually brown eye color
Rs4778241(A;C) usually brown eye color
Rs4778241(C;C) blue eye color if part of blue eye color haplotype
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)

? (A;A) (A;C) (C;C)
Related to SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 according to omim 227220. See also


Related to OCA2 GENE according to omim 611409. See also
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