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rs199473554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Brugada Syndrome
(G;G) 0 common in clinvar


Make rs199473554(A;A)
ReferenceGRCh38 38.1/142
Chromosome3
Position38630392
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473554
dbSNP (classic)rs199473554
ClinGenrs199473554
ebirs199473554
HLIrs199473554
Exacrs199473554
Gnomadrs199473554
Varsomers199473554
LitVarrs199473554
Maprs199473554
PheGenIrs199473554
Biobankrs199473554
1000 genomesrs199473554
hgdprs199473554
ensemblrs199473554
geneviewrs199473554
scholarrs199473554
googlers199473554
pharmgkbrs199473554
gwascentralrs199473554
openSNPrs199473554
23andMers199473554
SNPshotrs199473554
SNPdbers199473554
MSV3drs199473554
GWAS Ctlgrs199473554
Max Magnitude6
ClinVar
Risk rs199473554(A;A)
Alt rs199473554(A;A)
Reference Rs199473554(G;G)
Significance Pathogenic
Disease Brugada syndrome not provided
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38671883C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058551.4, RCV000182924.2,