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rs730880688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880688(-;C)
Make rs730880688(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47343594
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880688
dbSNP (classic)rs730880688
ClinGenrs730880688
ebirs730880688
HLIrs730880688
Exacrs730880688
Gnomadrs730880688
Varsomers730880688
LitVarrs730880688
Maprs730880688
PheGenIrs730880688
Biobankrs730880688
1000 genomesrs730880688
hgdprs730880688
ensemblrs730880688
geneviewrs730880688
scholarrs730880688
googlers730880688
pharmgkbrs730880688
gwascentralrs730880688
openSNPrs730880688
23andMers730880688
SNPshotrs730880688
SNPdbers730880688
MSV3drs730880688
GWAS Ctlgrs730880688
Max Magnitude0
ClinVar
Risk rs730880688(C;C)
Alt rs730880688(C;C)
Reference Rs730880688(-;-)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47365146dupG
CLNSRC
CLNACC RCV000158425.1,