rs8028689

Orientation

plus

Stabilized

plus

Make rs8028689(C;C)

Make rs8028689(C;T)

Make rs8028689(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

28243742

Gene

HERC2

is a	snp
is	mentioned by
dbSNP	rs8028689
dbSNP (classic)	rs8028689
ClinGen	rs8028689
ebi	rs8028689
HLI	rs8028689
Exac	rs8028689
Gnomad	rs8028689
Varsome	rs8028689
LitVar	rs8028689
Map	rs8028689
PheGenI	rs8028689
Biobank	rs8028689
1000 genomes	rs8028689
hgdp	rs8028689
ensembl	rs8028689
geneview	rs8028689
scholar	rs8028689
google	rs8028689
pharmgkb	rs8028689
gwascentral	rs8028689
openSNP	rs8028689
23andMe	rs8028689
SNPshot	rs8028689
SNPdbe	rs8028689
MSV3d	rs8028689
GWAS Ctlg	rs8028689

GMAF

0.2378

Max Magnitude

0

?	(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 18252221] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

[PMID 18483556] 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]