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rs397516142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs397516142(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425357
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516142
dbSNP (classic)rs397516142
ClinGenrs397516142
ebirs397516142
HLIrs397516142
Exacrs397516142
Gnomadrs397516142
Varsomers397516142
LitVarrs397516142
Maprs397516142
PheGenIrs397516142
Biobankrs397516142
1000 genomesrs397516142
hgdprs397516142
ensemblrs397516142
geneviewrs397516142
scholarrs397516142
googlers397516142
pharmgkbrs397516142
gwascentralrs397516142
openSNPrs397516142
23andMers397516142
SNPshotrs397516142
SNPdbers397516142
MSV3drs397516142
GWAS Ctlgrs397516142
Max Magnitude6.2
ClinVar
Risk rs397516142(A;A) rs397516142(C;C)
Alt rs397516142(A;A) rs397516142(C;C)
Reference Rs397516142(G;G)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided not specified
Variation info
Gene MYH7
CLNDBN Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided not specified
Reversed 1
HGVS NC_000014.8:g.23894566C>G; NC_000014.8:g.23894566C>T
CLNSRC ClinVar
CLNACC RCV000035784.3, RCV000157360.1, RCV000157359.2, RCV000444026.1, RCV000455847.1,