|?|| (A;A) (A;G) (G;G) ||28|
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
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]:
|| [PMID 18252221]
|| Iris color
| Risk Allele
| 95% CI
[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
|Desc||HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2|
[PMID 20650992] Association of IBD Risk Loci with Sarcoidosis and its Acute and Chronic Subphenotypes
] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
[PMID 18483556] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
[PMID 19068216] Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
[PMID 19915572] Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
|| Insufficiently evaluated pathogenic