rs2238289
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2238289(C;C) |
| Make rs2238289(C;T) |
| Make rs2238289(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 28208069 |
| Gene | HERC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2238289 |
| dbSNP (classic) | rs2238289 |
| ClinGen | rs2238289 |
| ebi | rs2238289 |
| HLI | rs2238289 |
| Exac | rs2238289 |
| Gnomad | rs2238289 |
| Varsome | rs2238289 |
| LitVar | rs2238289 |
| Map | rs2238289 |
| PheGenI | rs2238289 |
| Biobank | rs2238289 |
| 1000 genomes | rs2238289 |
| hgdp | rs2238289 |
| ensembl | rs2238289 |
| geneview | rs2238289 |
| scholar | rs2238289 |
| rs2238289 | |
| pharmgkb | rs2238289 |
| gwascentral | rs2238289 |
| openSNP | rs2238289 |
| 23andMe | rs2238289 |
| SNPshot | rs2238289 |
| SNPdbe | rs2238289 |
| MSV3d | rs2238289 |
| GWAS Ctlg | rs2238289 |
| GMAF | 0.4568 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2238289 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 20042077
] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
