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rs199473062

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473062(A;A)
Make rs199473062(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38622401
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473062
dbSNP (classic)rs199473062
ClinGenrs199473062
ebirs199473062
HLIrs199473062
Exacrs199473062
Gnomadrs199473062
Varsomers199473062
LitVarrs199473062
Maprs199473062
PheGenIrs199473062
Biobankrs199473062
1000 genomesrs199473062
hgdprs199473062
ensemblrs199473062
geneviewrs199473062
scholarrs199473062
googlers199473062
pharmgkbrs199473062
gwascentralrs199473062
openSNPrs199473062
23andMers199473062
SNPshotrs199473062
SNPdbers199473062
MSV3drs199473062
GWAS Ctlgrs199473062
Max Magnitude0
ClinVar
Risk rs199473062(A;A) rs199473062(C;C)
Alt rs199473062(A;A) rs199473062(C;C)
Reference Rs199473062(G;G)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38663892C>G; NC_000003.11:g.38663892C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058711.2, RCV000058710.2,