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rs199473254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473254(G;T)
Make rs199473254(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38556476
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473254
ebirs199473254
HLIrs199473254
Exacrs199473254
Varsomers199473254
Maprs199473254
PheGenIrs199473254
hapmaprs199473254
1000 genomesrs199473254
hgdprs199473254
ensemblrs199473254
gopubmedrs199473254
geneviewrs199473254
scholarrs199473254
googlers199473254
pharmgkbrs199473254
gwascentralrs199473254
openSNPrs199473254
23andMers199473254
23andMe allrs199473254
SNP Nexus

SNPshotrs199473254
SNPdbers199473254
MSV3drs199473254
GWAS Ctlgrs199473254
Max Magnitude0
ClinVar
Risk rs199473254(T;T)
Alt rs199473254(T;T)
Reference rs199473254(G;G)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38597967C>A
CLNSRC ClinVar
CLNACC RCV000058669.2,