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rs199473243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473243(G;T)
Make rs199473243(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38557271
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473243
ebirs199473243
HLIrs199473243
Exacrs199473243
Varsomers199473243
Maprs199473243
PheGenIrs199473243
hapmaprs199473243
1000 genomesrs199473243
hgdprs199473243
ensemblrs199473243
gopubmedrs199473243
geneviewrs199473243
scholarrs199473243
googlers199473243
pharmgkbrs199473243
gwascentralrs199473243
openSNPrs199473243
23andMers199473243
23andMe allrs199473243
SNP Nexus

SNPshotrs199473243
SNPdbers199473243
MSV3drs199473243
GWAS Ctlgrs199473243
Max Magnitude0
ClinVar
Risk rs199473243(T;T)
Alt rs199473243(T;T)
Reference rs199473243(G;G)
Significance Probable-Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38598762C>A
CLNSRC ClinVar
CLNACC RCV000058654.2,