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rs397517065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397517065(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34792471
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs397517065
dbSNP (classic)rs397517065
ClinGenrs397517065
ebirs397517065
HLIrs397517065
Exacrs397517065
Gnomadrs397517065
Varsomers397517065
LitVarrs397517065
Maprs397517065
PheGenIrs397517065
Biobankrs397517065
1000 genomesrs397517065
hgdprs397517065
ensemblrs397517065
geneviewrs397517065
scholarrs397517065
googlers397517065
pharmgkbrs397517065
gwascentralrs397517065
openSNPrs397517065
23andMers397517065
SNPshotrs397517065
SNPdbers397517065
MSV3drs397517065
GWAS Ctlgrs397517065
Max Magnitude6.2
ClinVar
Risk rs397517065(T;T)
Alt rs397517065(T;T)
Reference Rs397517065(C;C)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000015.9:g.35084672G>A
CLNSRC ClinVar
CLNACC RCV000038333.2,