Rs12913832
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs12913832 |
| hapmap | rs12913832 |
| hgdp | rs12913832 |
| ensembl | rs12913832 |
| gopubmed | rs12913832 |
| scholar | rs12913832 |
| rs12913832 | |
| pharmgkb | rs12913832 |
| hgvbaseg2p | rs12913832 |
| medrefsnp | rs12913832 |
| 23andMe | rs12913832 |
| SNP Nexus |
| Gene | HERC2 |
| Chromosome | 15 |
| Orientation | plus |
| Position | 26039212 |
| Genotype | Effect |
|---|---|
| rs12913832(A;A) | brown eye color, 80% of the time |
| rs12913832(A;G) | brown eye color |
| rs12913832(G;G) | blue eye color, 99% of the time |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs12913832(A;A) | 00 | brown eye color, 80% of the time |
| Rs12913832(A;G) | brown eye color | |
| Rs12913832(G;G) | blue eye color, 99% of the time |
rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is 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]
[PMID 18650849] rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin, eye, and hair color variation.
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)
blog coverage
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
| Neighbor | rs7183877 |
| Distance | 115 |
| GWAS | |
|---|---|
| SNP | rs12913832 |
| PubMedID | [PMID 18483556] |
| Condition | Black vs. red hair color |
| Gene | HERC2 |
| Risk Allele | A |
| pValue | 1.00E-077 |
| OR | 0.44 |
| 95% CI | 0.40-0.48) decrease in hair color scor |
[PMID 19278018] Brief communication: Blue eyes in lemurs and humans: Same phenotype, different genetic mechanism
[PMID 19208107] Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
| PharmGKB | PA162356368 |
| Name | |
| Annotation | GWAS Results: A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation (Initial Sample Size: 2,287 women; Replication Sample Size: up to 8,465 individuals; Risk/trait Allele: rs12913832-A). This variant is associated with Black vs. blond hair color. |
| Gene | HERC2 |
| Featue | |
| Evidence | PubMed ID:18483556; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | |
| Curation Level | Non-Curated |
