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rs199473119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473119(C;T)
Make rs199473119(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38604035
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473119
dbSNP (classic)rs199473119
ClinGenrs199473119
ebirs199473119
HLIrs199473119
Exacrs199473119
Gnomadrs199473119
Varsomers199473119
LitVarrs199473119
Maprs199473119
PheGenIrs199473119
Biobankrs199473119
1000 genomesrs199473119
hgdprs199473119
ensemblrs199473119
geneviewrs199473119
scholarrs199473119
googlers199473119
pharmgkbrs199473119
gwascentralrs199473119
openSNPrs199473119
23andMers199473119
SNPshotrs199473119
SNPdbers199473119
MSV3drs199473119
GWAS Ctlgrs199473119
Max Magnitude0
ClinVar
Risk rs199473119(T;T)
Alt rs199473119(T;T)
Reference Rs199473119(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome Atrial fibrillation Brugada syndrome 1 Dilated cardiomyopathy 1E Long QT syndrome 3 Paroxysmal familial ventricular fibrillation 1 Progressive familial heart block type 1A not specified Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Atrial fibrillation, familial, 10 Brugada syndrome 1 Dilated cardiomyopathy 1E Long QT syndrome 3 Paroxysmal familial ventricular fibrillation 1 Progressive familial heart block type 1A not specified Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38645526G>A
CLNSRC ClinVar
CLNACC RCV000058429.3, RCV000196670.1, RCV000239767.1, RCV000464270.1,