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rs199473198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473198(A;C)
Make rs199473198(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38576759
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473198
dbSNP (classic)rs199473198
ClinGenrs199473198
ebirs199473198
HLIrs199473198
Exacrs199473198
Gnomadrs199473198
Varsomers199473198
LitVarrs199473198
Maprs199473198
PheGenIrs199473198
Biobankrs199473198
1000 genomesrs199473198
hgdprs199473198
ensemblrs199473198
geneviewrs199473198
scholarrs199473198
googlers199473198
pharmgkbrs199473198
gwascentralrs199473198
openSNPrs199473198
23andMers199473198
SNPshotrs199473198
SNPdbers199473198
MSV3drs199473198
GWAS Ctlgrs199473198
Max Magnitude0
ClinVar
Risk rs199473198(C;C)
Alt rs199473198(C;C)
Reference Rs199473198(A;A)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38618250T>G
CLNSRC ClinVar
CLNACC RCV000058570.3, RCV000183036.1, RCV000472805.1,