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rs730880674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACT;ACT) 0 common in clinvar
Make rs730880674(-;-)
Make rs730880674(-;ACT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47332895
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880674
dbSNP (classic)rs730880674
ClinGenrs730880674
ebirs730880674
HLIrs730880674
Exacrs730880674
Gnomadrs730880674
Varsomers730880674
LitVarrs730880674
Maprs730880674
PheGenIrs730880674
Biobankrs730880674
1000 genomesrs730880674
hgdprs730880674
ensemblrs730880674
geneviewrs730880674
scholarrs730880674
googlers730880674
pharmgkbrs730880674
gwascentralrs730880674
openSNPrs730880674
23andMers730880674
SNPshotrs730880674
SNPdbers730880674
MSV3drs730880674
GWAS Ctlgrs730880674
Max Magnitude0
ClinVar
Risk rs730880674(-;-)
Alt rs730880674(-;-)
Reference Rs730880674(ACT;ACT)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354446_47354448delAGT
CLNSRC
CLNACC RCV000158402.1, RCV000208115.1,