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rs199473294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473294(A;A)
Make rs199473294(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551334
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473294
dbSNP (classic)rs199473294
ClinGenrs199473294
ebirs199473294
HLIrs199473294
Exacrs199473294
Gnomadrs199473294
Varsomers199473294
LitVarrs199473294
Maprs199473294
PheGenIrs199473294
Biobankrs199473294
1000 genomesrs199473294
hgdprs199473294
ensemblrs199473294
geneviewrs199473294
scholarrs199473294
googlers199473294
pharmgkbrs199473294
gwascentralrs199473294
openSNPrs199473294
23andMers199473294
SNPshotrs199473294
SNPdbers199473294
MSV3drs199473294
GWAS Ctlgrs199473294
Max Magnitude0
ClinVar
Risk rs199473294(A;A)
Alt rs199473294(A;A)
Reference Rs199473294(G;G)
Significance Probable-non-pathogenic
Disease Brugada syndrome Sudden cardiac death not specified
Variation info
Gene SCN5A
CLNDBN Brugada syndrome Sudden cardiac death not specified
Reversed 1
HGVS NC_000003.11:g.38592825C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058737.2, RCV000171771.1, RCV000183098.2,