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rs199473247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473247(G;T)
Make rs199473247(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38557232
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473247
ebirs199473247
HLIrs199473247
Exacrs199473247
Varsomers199473247
Maprs199473247
PheGenIrs199473247
hapmaprs199473247
1000 genomesrs199473247
hgdprs199473247
ensemblrs199473247
gopubmedrs199473247
geneviewrs199473247
scholarrs199473247
googlers199473247
pharmgkbrs199473247
gwascentralrs199473247
openSNPrs199473247
23andMers199473247
23andMe allrs199473247
SNP Nexus

SNPshotrs199473247
SNPdbers199473247
MSV3drs199473247
GWAS Ctlgrs199473247
Max Magnitude0
ClinVar
Risk rs199473247(A,T;A,T)
Alt rs199473247(A,T;A,T)
Reference rs199473247(G;G)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38598723C>A
CLNSRC ClinVar
CLNACC RCV000058659.2,