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rs1129038

From SNPedia

Orientationminus
Stabilizedminus
Make rs1129038(A;A)
Make rs1129038(A;G)
Make rs1129038(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position28111713
GeneHERC2
is asnp
is mentioned by
dbSNPrs1129038
ebirs1129038
HLIrs1129038
Exacrs1129038
Varsomers1129038
Maprs1129038
PheGenIrs1129038
hapmaprs1129038
1000 genomesrs1129038
hgdprs1129038
ensemblrs1129038
gopubmedrs1129038
geneviewrs1129038
scholarrs1129038
googlers1129038
pharmgkbrs1129038
gwascentralrs1129038
openSNPrs1129038
23andMers1129038
23andMe allrs1129038
SNP Nexus

SNPshotrs1129038
SNPdbers1129038
MSV3drs1129038
GWAS Ctlgrs1129038
GMAF0.2929
Max Magnitude
rs1129038 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)

OMIM227220
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
Variant
Relatedalso
OMIM605837
DescHECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
Variant
Relatedalso


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

GWAS snp
PMID [PMID 22561518OA-icon.png]
Trait
Title Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
Risk Allele C
P-val 4E-8
Odds Ratio 1.2200 None


[PMID 18252222OA-icon.png] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.


[PMID 18853455OA-icon.png] Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.


[PMID 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.


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


[PMID 20463881OA-icon.png] Digital quantification of human eye color highlights genetic association of three new loci.


[PMID 21926416OA-icon.png] Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.


[PMID 23100201OA-icon.png] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model


[PMID 22709892] Further development of forensic eye color predictive tests.