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rs193922377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922377(A;A)
Make rs193922377(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47343051
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922377
ebirs193922377
HLIrs193922377
Exacrs193922377
Varsomers193922377
Maprs193922377
PheGenIrs193922377
hapmaprs193922377
1000 genomesrs193922377
hgdprs193922377
ensemblrs193922377
gopubmedrs193922377
geneviewrs193922377
scholarrs193922377
googlers193922377
pharmgkbrs193922377
gwascentralrs193922377
openSNPrs193922377
23andMers193922377
23andMe allrs193922377
SNP Nexus

SNPshotrs193922377
SNPdbers193922377
MSV3drs193922377
GWAS Ctlgrs193922377
Max Magnitude0
ClinVar
Risk rs193922377(A;A)
Alt rs193922377(A;A)
Reference rs193922377(G;G)
Significance Pathogenic
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.47364602C>T
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000030279.4, RCV000035382.5,


[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

[PMID 20414521] [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].

[PMID 20624503] Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

[PMID 20851114] Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.