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rs199473634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473634(C;T)
Make rs199473634(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551036
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473634
dbSNP (classic)rs199473634
ClinGenrs199473634
ebirs199473634
HLIrs199473634
Exacrs199473634
Gnomadrs199473634
Varsomers199473634
LitVarrs199473634
Maprs199473634
PheGenIrs199473634
Biobankrs199473634
1000 genomesrs199473634
hgdprs199473634
ensemblrs199473634
geneviewrs199473634
scholarrs199473634
googlers199473634
pharmgkbrs199473634
gwascentralrs199473634
openSNPrs199473634
23andMers199473634
SNPshotrs199473634
SNPdbers199473634
MSV3drs199473634
GWAS Ctlgrs199473634
Max Magnitude0
ClinVar
Risk rs199473634(T;T)
Alt rs199473634(T;T)
Reference Rs199473634(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592527G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000058771.3, RCV000148849.1, RCV000183115.2, RCV000469805.1,