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rs121434344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434344(C;T)
Make rs121434344(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position60816389
GeneCHD7
is asnp
is mentioned by
dbSNPrs121434344
ebirs121434344
HLIrs121434344
Exacrs121434344
Varsomers121434344
Maprs121434344
PheGenIrs121434344
hapmaprs121434344
1000 genomesrs121434344
hgdprs121434344
ensemblrs121434344
gopubmedrs121434344
geneviewrs121434344
scholarrs121434344
googlers121434344
pharmgkbrs121434344
gwascentralrs121434344
openSNPrs121434344
23andMers121434344
23andMe allrs121434344
SNP Nexus

SNPshotrs121434344
SNPdbers121434344
MSV3drs121434344
GWAS Ctlgrs121434344
Max Magnitude0
OMIM608892
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434344(T;T)
Alt rs121434344(T;T)
Reference rs121434344(C;C)
Significance Pathogenic
Disease CHARGE association Hypogonadotropic hypogonadism 5 without anosmia
Variation info
Gene CHD7
CLNDBN CHARGE association Hypogonadotropic hypogonadism 5 without anosmia
Reversed 0
HGVS NC_000008.10:g.61728948C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002111.2, RCV000030798.2,