{{Rsnum
|rsid=916977
|Gene=HERC2
|Chromosome=15
|position=28268218
|Orientation=minus
|GMAF=0.4646
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HERC2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 26.5 | 72.6
| HCB | 56.2 | 38.0 | 5.8
| JPT | 65.5 | 27.4 | 7.1
| YRI | 90.5 | 9.5 | 0.0
| ASW | 57.9 | 38.6 | 3.5
| CHB | 56.2 | 38.0 | 5.8
| CHD | 53.2 | 39.4 | 7.3
| GIH | 41.6 | 44.6 | 13.9
| LWK | 91.8 | 8.2 | 0.0
| MEX | 22.4 | 36.2 | 41.4
| MKK | 78.8 | 20.5 | 0.6
| TSI | 18.6 | 42.2 | 39.2
| HapMapRevision=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)<br>
[[rs1129038]](A)<br>
[[rs12593929]](A)<br>
[[rs12913832]](G)<br>
[[rs7183877]](C)<br>
[[rs3935591]](G)<br>
[[rs7170852]](A)<br>
[[rs2238289]](T)<br>
[[rs3940272]](C)<br>
[[rs8028689]](T)<br>
[[rs2240203]](A)<br>
[[rs11631797]](G)<br>
[[rs916977]](G)<br>

{{GWAS Summary
|SNP=rs916977
|PubMedID=18252221
|Condition=Iris color
|Gene=HERC2
|Risk Allele=
|pValue=1.00E-043
|OR=NA
|95CI=
|OA=1
}}
{{PMID Auto
|PMID=19174780
|Title=Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
}}

{{omim
|id=605837
|desc=HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
|rsnum=916977
}}

{{PharmGKB
|RSID=rs916977
|Name_s=
|Gene_s=HERC2
|Feature=
|Evidence=PubMed ID:18252221; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene (Initial Sample Size: 1,406 individuals; Replication Sample Size: 8,273 individuals). This variant is associated with Iris color.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356579
}}

{{PMID Auto
|PMID=20650992
|Title=Association of IBD Risk Loci with Sarcoidosis and its Acute and Chronic Subphenotypes
}}

{{omim
|id=266600
|rsnum=916977
}}

{{omim
|id=605837
|rsnum=916977
|variant=0002
}}

{{PMID Auto
|PMID=18252222
|Title=A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
|OA=1
}}

{{PMID Auto
|PMID=18483556
|Title=A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
|OA=1
}}

{{PMID Auto
|PMID=19068216
|Title=Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
|OA=1
}}

{{PMID Auto
|PMID=19915572
|Title=Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
|OA=1
}}

{{PMID Auto
|PMID=20042077
|Title=Genetic determinants of hair and eye colours in the Scottish and Danish populations.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs916977
|overall_frequency_n=49
|overall_frequency_d=128
|overall_frequency=0.382812
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}