Rs2238289
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2238289 |
| hapmap | rs2238289 |
| hgdp | rs2238289 |
| ensembl | rs2238289 |
| gopubmed | rs2238289 |
| scholar | rs2238289 |
| rs2238289 | |
| pharmgkb | rs2238289 |
| hgvbaseg2p | rs2238289 |
| medrefsnp | rs2238289 |
| 23andMe | rs2238289 |
| SNP Nexus |
| Gene | OCA2 |
| Chromosome | 15 |
| Orientation | minus |
| Position | 26126810 |
| Genotype | Effect |
|---|---|
| rs2238289(C;C) | usually brown eye color |
| rs2238289(C;T) | usually brown eye color |
| rs2238289(T;T) | blue eye color if part of blue eye color haplotype |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2238289(C;C) | usually brown eye color | |
| Rs2238289(C;T) | usually brown eye color | |
| Rs2238289(T;T) | blue eye color if part of blue eye color haplotype |
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)
| ? | (C;C) (C;T) (T;T) |
|---|---|
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