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rs372731424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372731424(C;G)
Make rs372731424(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23430583
GeneMYH7
is asnp
is mentioned by
dbSNPrs372731424
dbSNP (classic)rs372731424
ClinGenrs372731424
ebirs372731424
HLIrs372731424
Exacrs372731424
Gnomadrs372731424
Varsomers372731424
LitVarrs372731424
Maprs372731424
PheGenIrs372731424
Biobankrs372731424
1000 genomesrs372731424
hgdprs372731424
ensemblrs372731424
geneviewrs372731424
scholarrs372731424
googlers372731424
pharmgkbrs372731424
gwascentralrs372731424
openSNPrs372731424
23andMers372731424
SNPshotrs372731424
SNPdbers372731424
MSV3drs372731424
GWAS Ctlgrs372731424
Max Magnitude0
ClinVar
Risk rs372731424(G;G) rs372731424(T;T)
Alt rs372731424(G;G) rs372731424(T;T)
Reference Rs372731424(C;C)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000014.8:g.23899792C>G
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000036015.4, RCV000148710.1, RCV000227951.1,