Rs3940272
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs3940272 |
| hapmap | rs3940272 |
| hgdp | rs3940272 |
| ensembl | rs3940272 |
| gopubmed | rs3940272 |
| scholar | rs3940272 |
| rs3940272 | |
| pharmgkb | rs3940272 |
| hgvbaseg2p | rs3940272 |
| medrefsnp | rs3940272 |
| 23andMe | rs3940272 |
| SNP Nexus |
| Gene | OCA2 |
| Chromosome | 15 |
| Orientation | minus |
| Position | 26142318 |
| Genotype | Effect |
|---|---|
| rs3940272(A;A) | usually brown eye color |
| rs3940272(A;C) | usually brown eye color |
| rs3940272(C;C) | blue eye color if part of blue eye color haplotype |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs3940272(A;A) | usually brown eye color | |
| Rs3940272(A;C) | usually brown eye color | |
| Rs3940272(C;C) | blue eye color if part of blue eye color haplotype |
rs3940272 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)
| ? | (A;C) (C;C) |
|---|---|
|
| |
