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rs2238289

From SNPedia

Orientationminus
Stabilizedminus
Make rs2238289(C;C)
Make rs2238289(C;T)
Make rs2238289(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position28208069
GeneHERC2
is asnp
is mentioned by
dbSNPrs2238289
ebirs2238289
HLIrs2238289
Exacrs2238289
Varsomers2238289
Maprs2238289
PheGenIrs2238289
hapmaprs2238289
1000 genomesrs2238289
hgdprs2238289
ensemblrs2238289
gopubmedrs2238289
geneviewrs2238289
scholarrs2238289
googlers2238289
pharmgkbrs2238289
gwascentralrs2238289
openSNPrs2238289
23andMers2238289
23andMe allrs2238289
SNP Nexus

SNPshotrs2238289
SNPdbers2238289
MSV3drs2238289
GWAS Ctlgrs2238289
GMAF0.4568
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs2238289 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)

[PMID 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.