rs916977
| Orientation | minus |
| Stabilized | minus |
| Make rs916977(A;A) |
| Make rs916977(A;G) |
| Make rs916977(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 28268218 |
| Gene | HERC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs916977 |
| dbSNP (classic) | rs916977 |
| ClinGen | rs916977 |
| ebi | rs916977 |
| HLI | rs916977 |
| Exac | rs916977 |
| Gnomad | rs916977 |
| Varsome | rs916977 |
| LitVar | rs916977 |
| Map | rs916977 |
| PheGenI | rs916977 |
| Biobank | rs916977 |
| 1000 genomes | rs916977 |
| hgdp | rs916977 |
| ensembl | rs916977 |
| geneview | rs916977 |
| scholar | rs916977 |
| rs916977 | |
| pharmgkb | rs916977 |
| gwascentral | rs916977 |
| openSNP | rs916977 |
| 23andMe | rs916977 |
| SNPshot | rs916977 |
| SNPdbe | rs916977 |
| MSV3d | rs916977 |
| GWAS Ctlg | rs916977 |
| GMAF | 0.4646 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
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)
| 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
[PMID 20650992] Association of IBD Risk Loci with Sarcoidosis and its Acute and Chronic Subphenotypes
[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 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.
