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rs730880138

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880138(C;T)
Make rs730880138(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47334008
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880138
ebirs730880138
HLIrs730880138
Exacrs730880138
Varsomers730880138
Maprs730880138
PheGenIrs730880138
hapmaprs730880138
1000 genomesrs730880138
hgdprs730880138
ensemblrs730880138
gopubmedrs730880138
geneviewrs730880138
scholarrs730880138
googlers730880138
pharmgkbrs730880138
gwascentralrs730880138
openSNPrs730880138
23andMers730880138
23andMe allrs730880138
SNP Nexus

SNPshotrs730880138
SNPdbers730880138
MSV3drs730880138
GWAS Ctlgrs730880138
Max Magnitude0
ClinVar
Risk rs730880138(T;T)
Alt rs730880138(T;T)
Reference rs730880138(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47355559G>A
CLNSRC
CLNACC RCV000157315.1,