Have questions? Visit https://www.reddit.com/r/SNPedia

rs201078659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs201078659(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47346380
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs201078659
dbSNP (classic)rs201078659
ClinGenrs201078659
ebirs201078659
HLIrs201078659
Exacrs201078659
Gnomadrs201078659
Varsomers201078659
LitVarrs201078659
Maprs201078659
PheGenIrs201078659
Biobankrs201078659
1000 genomesrs201078659
hgdprs201078659
ensemblrs201078659
geneviewrs201078659
scholarrs201078659
googlers201078659
pharmgkbrs201078659
gwascentralrs201078659
openSNPrs201078659
23andMers201078659
SNPshotrs201078659
SNPdbers201078659
MSV3drs201078659
GWAS Ctlgrs201078659
Max Magnitude6.2
ClinVar
Risk rs201078659(A;A) rs201078659(C;C) rs201078659(T;T)
Alt rs201078659(A;A) rs201078659(C;C) rs201078659(T;T)
Reference Rs201078659(G;G)
Significance Probable-Pathogenic
Disease Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant not specified Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47367931G>A; NC_000011.9:g.47367931G>C; NC_000011.9:g.47367931G>T
CLNSRC ClinVar
CLNACC RCV000305886.1, RCV000360595.1, RCV000396667.1, RCV000433499.1, RCV000035681.2,