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rs193922379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922379(A;A)
Make rs193922379(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337456
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922379
ebirs193922379
HLIrs193922379
Exacrs193922379
Varsomers193922379
Maprs193922379
PheGenIrs193922379
hapmaprs193922379
1000 genomesrs193922379
hgdprs193922379
ensemblrs193922379
gopubmedrs193922379
geneviewrs193922379
scholarrs193922379
googlers193922379
pharmgkbrs193922379
gwascentralrs193922379
openSNPrs193922379
23andMers193922379
23andMe allrs193922379
SNP Nexus

SNPshotrs193922379
SNPdbers193922379
MSV3drs193922379
GWAS Ctlgrs193922379
Max Magnitude0
ClinVar
Risk rs193922379(A;A)
Alt rs193922379(A;A)
Reference rs193922379(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359007A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030284.1,