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rs730880361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs730880361(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332241
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880361
dbSNP (classic)rs730880361
ClinGenrs730880361
ebirs730880361
HLIrs730880361
Exacrs730880361
Gnomadrs730880361
Varsomers730880361
LitVarrs730880361
Maprs730880361
PheGenIrs730880361
Biobankrs730880361
1000 genomesrs730880361
hgdprs730880361
ensemblrs730880361
geneviewrs730880361
scholarrs730880361
googlers730880361
pharmgkbrs730880361
gwascentralrs730880361
openSNPrs730880361
23andMers730880361
SNPshotrs730880361
SNPdbers730880361
MSV3drs730880361
GWAS Ctlgrs730880361
Max Magnitude6.2
ClinVar
Risk rs730880361(T;T)
Alt rs730880361(T;T)
Reference Rs730880361(-;-)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353793dupA
CLNSRC
CLNACC RCV000156319.2,