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rs200034939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200034939(A;A)
Make rs200034939(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position38557248
GeneSCN5A
is asnp
is mentioned by
dbSNPrs200034939
dbSNP (classic)rs200034939
ClinGenrs200034939
ebirs200034939
HLIrs200034939
Exacrs200034939
Gnomadrs200034939
Varsomers200034939
LitVarrs200034939
Maprs200034939
PheGenIrs200034939
Biobankrs200034939
1000 genomesrs200034939
hgdprs200034939
ensemblrs200034939
geneviewrs200034939
scholarrs200034939
googlers200034939
pharmgkbrs200034939
gwascentralrs200034939
openSNPrs200034939
23andMers200034939
SNPshotrs200034939
SNPdbers200034939
MSV3drs200034939
GWAS Ctlgrs200034939
Max Magnitude0
ClinVar
Risk rs200034939(A;A)
Alt rs200034939(A;A)
Reference Rs200034939(C;C)
Significance Probable-Pathogenic
Disease not specified not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN not specified not provided Brugada syndrome
Reversed 0
HGVS NC_000003.11:g.38598739C>A
CLNSRC
CLNACC RCV000155812.1, RCV000183069.3, RCV000199660.1,