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rs121434343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434343(A;A)
Make rs121434343(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position60853047
GeneCHD7
is asnp
is mentioned by
dbSNPrs121434343
dbSNP (classic)rs121434343
ClinGenrs121434343
ebirs121434343
HLIrs121434343
Exacrs121434343
Gnomadrs121434343
Varsomers121434343
LitVarrs121434343
Maprs121434343
PheGenIrs121434343
Biobankrs121434343
1000 genomesrs121434343
hgdprs121434343
ensemblrs121434343
geneviewrs121434343
scholarrs121434343
googlers121434343
pharmgkbrs121434343
gwascentralrs121434343
openSNPrs121434343
23andMers121434343
SNPshotrs121434343
SNPdbers121434343
MSV3drs121434343
GWAS Ctlgrs121434343
Max Magnitude0
OMIM608892
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434343(A;A)
Alt rs121434343(A;A)
Reference Rs121434343(G;G)
Significance Pathogenic
Disease CHARGE association
Variation info
Gene CHD7
CLNDBN CHARGE association
Reversed 0
HGVS NC_000008.10:g.61765606G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002110.2,