From SNPedia
rs916977 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, PMID 18252221]
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;A) (A;G) (G;G) |
|---|
 |
| GWAS
|
| SNP
| rs916977
|
| PubMedID
| [PMID 18252221]
|
| Condition
| Iris color
|
| Gene
| HERC2
|
| Risk Allele
|
|
| pValue
| 1.00E-043
|
| OR
| NA
|
| 95% CI
|
|
[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
Related to HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
according to
omim 605837. See
also
| PharmGKB | PA162356579 |
| Name | |
| Annotation | GWAS results: Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene (Initial Sample Size: 1,406 individuals; Replication Sample Size: 8,273 individuals). This variant is associated with Iris color. |
| Gene | HERC2 |
| Featue | |
| Evidence | PubMed ID:18252221; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | |
| Curation Level | Non-Curated |
