Rs2240203

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is asnp
is mentioned by
dbSNPrs2240203
hapmaprs2240203
hgdprs2240203
ensemblrs2240203
gopubmedrs2240203
scholarrs2240203
googlers2240203
pharmgkbrs2240203
hgvbaseg2prs2240203
medrefsnprs2240203
23andMers2240203
SNP Nexus

GeneOCA2
Chromosome15
Orientationminus
Position26167796
GenotypeEffect
rs2240203(A;A)usually brown eye color
rs2240203(A;G)usually brown eye color
rs2240203(G;G)blue eye color if part of blue eye color haplotype


Genotypes Magnitude Summary
Rs2240203(A;A) usually brown eye color
Rs2240203(A;G) usually brown eye color
Rs2240203(G;G) blue eye color if part of blue eye color haplotype
rs2240203 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;G) (G;G)
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