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rs121434340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434340(C;G)
Make rs121434340(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position60850506
GeneCHD7
is asnp
is mentioned by
dbSNPrs121434340
dbSNP (classic)rs121434340
ClinGenrs121434340
ebirs121434340
HLIrs121434340
Exacrs121434340
Gnomadrs121434340
Varsomers121434340
LitVarrs121434340
Maprs121434340
PheGenIrs121434340
Biobankrs121434340
1000 genomesrs121434340
hgdprs121434340
ensemblrs121434340
geneviewrs121434340
scholarrs121434340
googlers121434340
pharmgkbrs121434340
gwascentralrs121434340
openSNPrs121434340
23andMers121434340
SNPshotrs121434340
SNPdbers121434340
MSV3drs121434340
GWAS Ctlgrs121434340
Max Magnitude0
OMIM608892
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434340(G;G)
Alt rs121434340(G;G)
Reference Rs121434340(C;C)
Significance Pathogenic
Disease CHARGE association
Variation info
Gene CHD7
CLNDBN CHARGE association
Reversed 0
HGVS NC_000008.10:g.61763065C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002102.3,