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rs397514252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AA) 6 Brugada Syndrome
Make rs397514252(AA;AA)
ReferenceGRCh38 38.1/141
Chromosome3
Position38620838
GeneSCN5A
is asnp
is mentioned by
dbSNPrs397514252
dbSNP (classic)rs397514252
ClinGenrs397514252
ebirs397514252
HLIrs397514252
Exacrs397514252
Gnomadrs397514252
Varsomers397514252
LitVarrs397514252
Maprs397514252
PheGenIrs397514252
Biobankrs397514252
1000 genomesrs397514252
hgdprs397514252
ensemblrs397514252
geneviewrs397514252
scholarrs397514252
googlers397514252
pharmgkbrs397514252
gwascentralrs397514252
openSNPrs397514252
23andMers397514252
SNPshotrs397514252
SNPdbers397514252
MSV3drs397514252
GWAS Ctlgrs397514252
Max Magnitude6
ClinVar
Risk rs397514252(AA;AA)
Alt rs397514252(AA;AA)
Reference Rs397514252(-;-)
Significance Pathogenic
Disease Brugada syndrome 1
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1
Reversed 1
HGVS NC_000003.11:g.38662330_38662331dupTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009966.6,