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rs730880142

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880142(A;A)
Make rs730880142(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332086
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880142
ebirs730880142
HLIrs730880142
Exacrs730880142
Varsomers730880142
Maprs730880142
PheGenIrs730880142
hapmaprs730880142
1000 genomesrs730880142
hgdprs730880142
ensemblrs730880142
gopubmedrs730880142
geneviewrs730880142
scholarrs730880142
googlers730880142
pharmgkbrs730880142
gwascentralrs730880142
openSNPrs730880142
23andMers730880142
23andMe allrs730880142
SNP Nexus

SNPshotrs730880142
SNPdbers730880142
MSV3drs730880142
GWAS Ctlgrs730880142
Max Magnitude0
ClinVar
Risk rs730880142(A;A)
Alt rs730880142(A;A)
Reference rs730880142(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353637C>T
CLNSRC
CLNACC RCV000157323.2,