Rs7170852

From SNPedia

Jump to: navigation, search
is asnp
is mentioned by
dbSNPrs7170852
hapmaprs7170852
hgdprs7170852
ensemblrs7170852
gopubmedrs7170852
scholarrs7170852
googlers7170852
pharmgkbrs7170852
hgvbaseg2prs7170852
medrefsnprs7170852
23andMers7170852
SNP Nexus

GeneOCA2
Chromosome15
Orientationplus
Position26101580
GenotypeEffect
rs7170852(A;A)usually brown eye color
rs7170852(A;T)usually brown eye color
rs7170852(T;T)blue eye color if part of blue eye color haplotype


Genotypes Magnitude Summary
Rs7170852(A;A) usually brown eye color
Rs7170852(A;T) usually brown eye color
Rs7170852(T;T) blue eye color if part of blue eye color haplotype
rs7170852 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;T) (T;T)