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rs397516153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516153(C;T)
Make rs397516153(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23424935
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516153
ebirs397516153
HLIrs397516153
Exacrs397516153
Varsomers397516153
Maprs397516153
PheGenIrs397516153
hapmaprs397516153
1000 genomesrs397516153
hgdprs397516153
ensemblrs397516153
gopubmedrs397516153
geneviewrs397516153
scholarrs397516153
googlers397516153
pharmgkbrs397516153
gwascentralrs397516153
openSNPrs397516153
23andMers397516153
23andMe allrs397516153
SNP Nexus

SNPshotrs397516153
SNPdbers397516153
MSV3drs397516153
GWAS Ctlgrs397516153
Max Magnitude0
ClinVar
Risk rs397516153(A,T;A,T)
Alt rs397516153(A,T;A,T)
Reference rs397516153(C;C)
Significance Pathogenic
Disease Familial restrictive cardiomyopathy not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial restrictive cardiomyopathy not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894144G>A; NC_000014.8:g.23894144G>T
CLNSRC HGMD
CLNACC RCV000035799.4, RCV000078451.4, RCV000151268.1,