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rs193922386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922386(A;A)
Make rs193922386(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47346365
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922386
ebirs193922386
HLIrs193922386
Exacrs193922386
Varsomers193922386
Maprs193922386
PheGenIrs193922386
hapmaprs193922386
1000 genomesrs193922386
hgdprs193922386
ensemblrs193922386
gopubmedrs193922386
geneviewrs193922386
scholarrs193922386
googlers193922386
pharmgkbrs193922386
gwascentralrs193922386
openSNPrs193922386
23andMers193922386
23andMe allrs193922386
SNP Nexus

SNPshotrs193922386
SNPdbers193922386
MSV3drs193922386
GWAS Ctlgrs193922386
Max Magnitude0
ClinVar
Risk rs193922386(A,T;A,T)
Alt rs193922386(A,T;A,T)
Reference rs193922386(C;C)
Significance Other
Disease not specified Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47367916G>A; NC_000011.9:g.47367916G>T
CLNSRC ClinVar
CLNACC RCV000154588.1, RCV000030293.2, RCV000158304.2,


[PMID 18258667] Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.