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rs916977

From SNPedia

Orientationminus
Stabilizedminus
Make rs916977(A;A)
Make rs916977(A;G)
Make rs916977(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position28268218
GeneHERC2
is asnp
is mentioned by
dbSNPrs916977
ebirs916977
HLIrs916977
Exacrs916977
Varsomers916977
Maprs916977
PheGenIrs916977
hapmaprs916977
1000 genomesrs916977
hgdprs916977
ensemblrs916977
gopubmedrs916977
geneviewrs916977
scholarrs916977
googlers916977
pharmgkbrs916977
gwascentralrs916977
openSNPrs916977
23andMers916977
23andMe allrs916977
SNP Nexus

SNPshotrs916977
SNPdbers916977
MSV3drs916977
GWAS Ctlgrs916977
GMAF0.4646
Max Magnitude
? (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 18252221OA-icon.png]
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

OMIM605837
DescHECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
Variant
Relatedalso



[PMID 20650992] Association of IBD Risk Loci with Sarcoidosis and its Acute and Chronic Subphenotypes

OMIM266600
Desc
Variant
Relatedalso
OMIM605837
Desc
Variant0002
Relatedalso
[PMID 18252222OA-icon.png] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.


[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.


[PMID 19068216OA-icon.png] Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.


[PMID 19915572OA-icon.png] Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.


[PMID 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.


GET Evidence
rs916977
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.382812
summary