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rs121434338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434338(A;G)
Make rs121434338(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position60822627
GeneCHD7
is asnp
is mentioned by
dbSNPrs121434338
dbSNP (classic)rs121434338
ClinGenrs121434338
ebirs121434338
HLIrs121434338
Exacrs121434338
Gnomadrs121434338
Varsomers121434338
LitVarrs121434338
Maprs121434338
PheGenIrs121434338
Biobankrs121434338
1000 genomesrs121434338
hgdprs121434338
ensemblrs121434338
geneviewrs121434338
scholarrs121434338
googlers121434338
pharmgkbrs121434338
gwascentralrs121434338
openSNPrs121434338
23andMers121434338
SNPshotrs121434338
SNPdbers121434338
MSV3drs121434338
GWAS Ctlgrs121434338
Max Magnitude0
OMIM608892
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434338(G;G)
Alt rs121434338(G;G)
Reference Rs121434338(A;A)
Significance Pathogenic
Disease CHARGE association not provided
Variation info
Gene CHD7
CLNDBN CHARGE association not provided
Reversed 0
HGVS NC_000008.10:g.61735186A>G
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002100.4, RCV000081828.5,