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rs573821685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs573821685(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47333618
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs573821685
dbSNP (classic)rs573821685
ClinGenrs573821685
ebirs573821685
HLIrs573821685
Exacrs573821685
Gnomadrs573821685
Varsomers573821685
LitVarrs573821685
Maprs573821685
PheGenIrs573821685
Biobankrs573821685
1000 genomesrs573821685
hgdprs573821685
ensemblrs573821685
geneviewrs573821685
scholarrs573821685
googlers573821685
pharmgkbrs573821685
gwascentralrs573821685
openSNPrs573821685
23andMers573821685
SNPshotrs573821685
SNPdbers573821685
MSV3drs573821685
GWAS Ctlgrs573821685
Max Magnitude6.2
ClinVar
Risk rs573821685(A;A) rs573821685(T;T)
Alt rs573821685(A;A) rs573821685(T;T)
Reference Rs573821685(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47355169G>T
CLNSRC
CLNACC RCV000151075.2,