rs4778241 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) (this appears to be the causative SNP)
rs7183877(C)
rs3935591(G)
rs7170852(A) (this snp seems flipped, or odd)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
| OMIM | 227220 |
| Desc | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 |
| Variant | |
| Related | also |
[PMID 17236130
] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
[PMID 18252221] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
[PMID 18252222] 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 18683857] Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
[PMID 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
