Rs8028689

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Orientationplus
is asnp
is mentioned by
dbSNPrs8028689
PheGenIrs8028689
nextbiors8028689
hapmaprs8028689
1000 genomesrs8028689
hgdprs8028689
ensemblrs8028689
gopubmedrs8028689
geneviewrs8028689
scholarrs8028689
googlers8028689
pharmgkbrs8028689
gwascentralrs8028689
openSNPrs8028689
23andMers8028689
23andMe allrs8028689
SNP Nexus

SNPshotrs8028689
SNPdbers8028689
MSV3drs8028689
GeneHERC2
Chromosome15
Orientationplus
GMAF0.2378
Position28243742
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) usually brown eye color
(C;T) usually brown eye color
(T;T) 0 blue eye color if part of blue eye color haplotype
? (C;C) (C;T) (T;T) 28
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)


[PMID 18252221OA-icon.png] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.


[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

GWAS snp
PMID [PMID 23502783]
Trait Multiple myeloma (IgH translocation)
Title The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
Risk Allele G
P-val 7E-6
Odds Ratio 1.65 [1.33-2.05]