rs7183877
| Orientation | plus |
| Stabilized | plus |
| Make rs7183877(A;A) |
| Make rs7183877(A;C) |
| Make rs7183877(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 28120587 |
| Gene | HERC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7183877 |
| dbSNP (classic) | rs7183877 |
| ClinGen | rs7183877 |
| ebi | rs7183877 |
| HLI | rs7183877 |
| Exac | rs7183877 |
| Gnomad | rs7183877 |
| Varsome | rs7183877 |
| LitVar | rs7183877 |
| Map | rs7183877 |
| PheGenI | rs7183877 |
| Biobank | rs7183877 |
| 1000 genomes | rs7183877 |
| hgdp | rs7183877 |
| ensembl | rs7183877 |
| geneview | rs7183877 |
| scholar | rs7183877 |
| rs7183877 | |
| pharmgkb | rs7183877 |
| gwascentral | rs7183877 |
| openSNP | rs7183877 |
| 23andMe | rs7183877 |
| SNPshot | rs7183877 |
| SNPdbe | rs7183877 |
| MSV3d | rs7183877 |
| GWAS Ctlg | rs7183877 |
| GMAF | 0.1703 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs7183877 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)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
[PMID 18252221
] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
[PMID 18483556] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
