Promethease 0.1.82

Rs8028689

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is asnp
is mentioned by
dbSNPrs8028689
hapmaprs8028689
hgdprs8028689
ensemblrs8028689
gopubmedrs8028689
scholarrs8028689
googlers8028689
pharmgkbrs8028689
hgvbaseg2prs8028689
medrefsnprs8028689
23andMers8028689
SNP Nexus

GeneOCA2
Chromosome15
Orientationplus
Position26162483
GenotypeEffect
rs8028689(C;C)usually brown eye color
rs8028689(C;T)usually brown eye color
rs8028689(T;T)blue eye color if part of blue eye color haplotype


Genotypes Magnitude Summary
Rs8028689(C;C) usually brown eye color
Rs8028689(C;T) usually brown eye color
Rs8028689(T;T) blue eye color if part of blue eye color haplotype
rs8028689 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)

? (C;C) (C;T) (T;T)
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