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rs730880546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs730880546(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342050
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880546
dbSNP (classic)rs730880546
ClinGenrs730880546
ebirs730880546
HLIrs730880546
Exacrs730880546
Gnomadrs730880546
Varsomers730880546
LitVarrs730880546
Maprs730880546
PheGenIrs730880546
Biobankrs730880546
1000 genomesrs730880546
hgdprs730880546
ensemblrs730880546
geneviewrs730880546
scholarrs730880546
googlers730880546
pharmgkbrs730880546
gwascentralrs730880546
openSNPrs730880546
23andMers730880546
SNPshotrs730880546
SNPdbers730880546
MSV3drs730880546
GWAS Ctlgrs730880546
Max Magnitude6.2
ClinVar
Risk rs730880546(A;A)
Alt rs730880546(A;A)
Reference Rs730880546(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene MYBPC3
CLNDBN not provided
Reversed 1
HGVS NC_000011.9:g.47363601C>T
CLNSRC
CLNACC RCV000158101.2,