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rs730880159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs730880159(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23429031
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880159
dbSNP (classic)rs730880159
ClinGenrs730880159
ebirs730880159
HLIrs730880159
Exacrs730880159
Gnomadrs730880159
Varsomers730880159
LitVarrs730880159
Maprs730880159
PheGenIrs730880159
Biobankrs730880159
1000 genomesrs730880159
hgdprs730880159
ensemblrs730880159
geneviewrs730880159
scholarrs730880159
googlers730880159
pharmgkbrs730880159
gwascentralrs730880159
openSNPrs730880159
23andMers730880159
SNPshotrs730880159
SNPdbers730880159
MSV3drs730880159
GWAS Ctlgrs730880159
Max Magnitude6.2
ClinVar
Risk rs730880159(C;C) rs730880159(G;G)
Alt rs730880159(C;C) rs730880159(G;G)
Reference Rs730880159(A;A)
Significance Probable-Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23898240T>C; NC_000014.8:g.23898240T>G
CLNSRC
CLNACC RCV000158797.2, RCV000208202.1, RCV000468249.1, RCV000157355.1,