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rs318240760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs318240760(A;A)
Make rs318240760(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position120871178
GeneWDR11
is asnp
is mentioned by
dbSNPrs318240760
ebirs318240760
HLIrs318240760
Exacrs318240760
Varsomers318240760
Maprs318240760
PheGenIrs318240760
hapmaprs318240760
1000 genomesrs318240760
hgdprs318240760
ensemblrs318240760
gopubmedrs318240760
geneviewrs318240760
scholarrs318240760
googlers318240760
pharmgkbrs318240760
gwascentralrs318240760
openSNPrs318240760
23andMers318240760
23andMe allrs318240760
SNP Nexus

SNPshotrs318240760
SNPdbers318240760
MSV3drs318240760
GWAS Ctlgrs318240760
Max Magnitude0
ClinVar
Risk rs318240760(A;A) rs318240760(C;C)
Alt rs318240760(A;A) rs318240760(C;C)
Reference Rs318240760(G;G)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 14 with or without anosmia not provided
Variation info
Gene WDR11
CLNDBN Hypogonadotropic hypogonadism 14 with or without anosmia not provided
Reversed 0
HGVS NC_000010.10:g.122630690G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000030849.2, RCV000059797.1,


[PMID 20887964OA-icon.png] WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.