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rs199473266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473266(C;G)
Make rs199473266(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38555697
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473266
dbSNP (classic)rs199473266
ClinGenrs199473266
ebirs199473266
HLIrs199473266
Exacrs199473266
Gnomadrs199473266
Varsomers199473266
LitVarrs199473266
Maprs199473266
PheGenIrs199473266
Biobankrs199473266
1000 genomesrs199473266
hgdprs199473266
ensemblrs199473266
geneviewrs199473266
scholarrs199473266
googlers199473266
pharmgkbrs199473266
gwascentralrs199473266
openSNPrs199473266
23andMers199473266
SNPshotrs199473266
SNPdbers199473266
MSV3drs199473266
GWAS Ctlgrs199473266
Max Magnitude0
ClinVar
Risk rs199473266(G;G)
Alt rs199473266(G;G)
Reference Rs199473266(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38597188G>C
CLNSRC ClinVar
CLNACC RCV000058684.3, RCV000472311.1,