rs1129038
| Orientation | minus |
| Stabilized | minus |
| Make rs1129038(A;A) |
| Make rs1129038(A;G) |
| Make rs1129038(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 28111713 |
| Gene | HERC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1129038 |
| dbSNP (classic) | rs1129038 |
| ClinGen | rs1129038 |
| ebi | rs1129038 |
| HLI | rs1129038 |
| Exac | rs1129038 |
| Gnomad | rs1129038 |
| Varsome | rs1129038 |
| LitVar | rs1129038 |
| Map | rs1129038 |
| PheGenI | rs1129038 |
| Biobank | rs1129038 |
| 1000 genomes | rs1129038 |
| hgdp | rs1129038 |
| ensembl | rs1129038 |
| geneview | rs1129038 |
| scholar | rs1129038 |
| rs1129038 | |
| pharmgkb | rs1129038 |
| gwascentral | rs1129038 |
| openSNP | rs1129038 |
| 23andMe | rs1129038 |
| SNPshot | rs1129038 |
| SNPdbe | rs1129038 |
| MSV3d | rs1129038 |
| GWAS Ctlg | rs1129038 |
| GMAF | 0.2929 |
| Max Magnitude | 0 |
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)
[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP
| GWAS snp | |
|---|---|
| PMID | [PMID 22561518 ]
|
| 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 18252222] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
[PMID 18853455] 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 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20463881] Digital quantification of human eye color highlights genetic association of three new loci.
[PMID 21926416] Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
[PMID 23100201] 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.
[PMID 33167923] Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil.
