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rs7170852

From SNPedia

Orientationplus
Stabilizedplus
Make rs7170852(A;A)
Make rs7170852(A;T)
Make rs7170852(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position28182840
GeneHERC2
is asnp
is mentioned by
dbSNPrs7170852
ebirs7170852
HLIrs7170852
Exacrs7170852
Varsomers7170852
Maprs7170852
PheGenIrs7170852
hapmaprs7170852
1000 genomesrs7170852
hgdprs7170852
ensemblrs7170852
gopubmedrs7170852
geneviewrs7170852
scholarrs7170852
googlers7170852
pharmgkbrs7170852
gwascentralrs7170852
openSNPrs7170852
23andMers7170852
23andMe allrs7170852
SNP Nexus

SNPshotrs7170852
SNPdbers7170852
MSV3drs7170852
GWAS Ctlgrs7170852
GMAF0.4977
Max Magnitude
? (A;A) (A;T) (T;T) 28
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) (this appears to be the causative SNP)
rs7183877(C)
rs3935591(G)
rs7170852(A) (this snp seems flipped, or odd)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)


[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP


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