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rs730880143

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880143(A;A)
Make rs730880143(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47343625
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880143
ebirs730880143
HLIrs730880143
Exacrs730880143
Varsomers730880143
Maprs730880143
PheGenIrs730880143
hapmaprs730880143
1000 genomesrs730880143
hgdprs730880143
ensemblrs730880143
gopubmedrs730880143
geneviewrs730880143
scholarrs730880143
googlers730880143
pharmgkbrs730880143
gwascentralrs730880143
openSNPrs730880143
23andMers730880143
23andMe allrs730880143
SNP Nexus

SNPshotrs730880143
SNPdbers730880143
MSV3drs730880143
GWAS Ctlgrs730880143
Max Magnitude0
ClinVar
Risk rs730880143(A;A)
Alt rs730880143(A;A)
Reference rs730880143(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.47365176C>T
CLNSRC
CLNACC RCV000157324.1,