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rs193922380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922380(C;G)
Make rs193922380(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47335077
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922380
ebirs193922380
HLIrs193922380
Exacrs193922380
Varsomers193922380
Maprs193922380
PheGenIrs193922380
hapmaprs193922380
1000 genomesrs193922380
hgdprs193922380
ensemblrs193922380
gopubmedrs193922380
geneviewrs193922380
scholarrs193922380
googlers193922380
pharmgkbrs193922380
gwascentralrs193922380
openSNPrs193922380
23andMers193922380
23andMe allrs193922380
SNP Nexus

SNPshotrs193922380
SNPdbers193922380
MSV3drs193922380
GWAS Ctlgrs193922380
Max Magnitude0
ClinVar
Risk rs193922380(G;G)
Alt rs193922380(G;G)
Reference rs193922380(C;C)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not specified Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not specified Cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47356628G>C
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000030285.4, RCV000035534.5, RCV000158191.1, RCV000229832.1,


[PMID 18957093OA-icon.png] Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

[PMID 20433692OA-icon.png] Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.