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rs193922681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922681(C;C)
Make rs193922681(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34794742
GeneACTC1
is asnp
is mentioned by
dbSNPrs193922681
ebirs193922681
HLIrs193922681
Exacrs193922681
Varsomers193922681
Maprs193922681
PheGenIrs193922681
hapmaprs193922681
1000 genomesrs193922681
hgdprs193922681
ensemblrs193922681
gopubmedrs193922681
geneviewrs193922681
scholarrs193922681
googlers193922681
pharmgkbrs193922681
gwascentralrs193922681
openSNPrs193922681
23andMers193922681
23andMe allrs193922681
SNP Nexus

SNPshotrs193922681
SNPdbers193922681
MSV3drs193922681
GWAS Ctlgrs193922681
Max Magnitude0
ClinVar
Risk rs193922681(C;C)
Alt rs193922681(C;C)
Reference rs193922681(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000015.9:g.35086943A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029294.1,