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
The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows [PMID 18172690]:
|Desc||SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1|
|Desc||HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2|
[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP
|| [PMID 22561518]
|| Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
| Risk Allele
| Odds Ratio
|| 1.2200 None
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