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rs573916965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.2 Familial Hypertrophic Cardiomyopathy
(C;C) 0 common in clinvar


Make rs573916965(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47346297
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs573916965
dbSNP (classic)rs573916965
ClinGenrs573916965
ebirs573916965
HLIrs573916965
Exacrs573916965
Gnomadrs573916965
Varsomers573916965
LitVarrs573916965
Maprs573916965
PheGenIrs573916965
Biobankrs573916965
1000 genomesrs573916965
hgdprs573916965
ensemblrs573916965
geneviewrs573916965
scholarrs573916965
googlers573916965
pharmgkbrs573916965
gwascentralrs573916965
openSNPrs573916965
23andMers573916965
SNPshotrs573916965
SNPdbers573916965
MSV3drs573916965
GWAS Ctlgrs573916965
Max Magnitude6.2
ClinVar
Risk rs573916965(A;A) rs573916965(T;T)
Alt rs573916965(A;A) rs573916965(T;T)
Reference Rs573916965(C;C)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47367848C>A; NC_000011.9:g.47367848C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000211794.2, RCV000154555.4, RCV000168764.2, RCV000294264.1, RCV000349011.1, RCV000405438.1,