Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs193922385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Linked to hypertrophic and dilated cardiomyopathy
Make rs193922385(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47349899
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922385
dbSNP (old)rs193922385
ClinGenrs193922385
ebirs193922385
HLIrs193922385
Exacrs193922385
Gnomadrs193922385
Varsomers193922385
Maprs193922385
PheGenIrs193922385
Biobankrs193922385
1000 genomesrs193922385
hgdprs193922385
ensemblrs193922385
gopubmedrs193922385
geneviewrs193922385
scholarrs193922385
googlers193922385
pharmgkbrs193922385
gwascentralrs193922385
openSNPrs193922385
23andMers193922385
23andMe allrs193922385
SNPshotrs193922385
SNPdbers193922385
MSV3drs193922385
GWAS Ctlgrs193922385
Max Magnitude2

[PMID 24062880OA-icon.png] Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.


ClinVar
Risk rs193922385(T;T)
Alt rs193922385(T;T)
Reference Rs193922385(C;C)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not specified
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not specified
Reversed 1
HGVS NC_000011.9:g.47371450G>A
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000030291.3, RCV000151166.3,