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rs199473617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473617(C;C)
Make rs199473617(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38554530
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473617
ebirs199473617
HLIrs199473617
Exacrs199473617
Varsomers199473617
Maprs199473617
PheGenIrs199473617
hapmaprs199473617
1000 genomesrs199473617
hgdprs199473617
ensemblrs199473617
gopubmedrs199473617
geneviewrs199473617
scholarrs199473617
googlers199473617
pharmgkbrs199473617
gwascentralrs199473617
openSNPrs199473617
23andMers199473617
23andMe allrs199473617
SNP Nexus

SNPshotrs199473617
SNPdbers199473617
MSV3drs199473617
GWAS Ctlgrs199473617
Max Magnitude0
ClinVar
Risk rs199473617(A,C;A,C)
Alt rs199473617(A,C;A,C)
Reference rs199473617(T;T)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38596021A>T
CLNSRC ClinVar
CLNACC RCV000058690.2,