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rs199473058

From SNPedia

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


Make rs199473058(A;A)
ReferenceGRCh38 38.1/142
Chromosome3
Position38630341
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473058
dbSNP (classic)rs199473058
ClinGenrs199473058
ebirs199473058
HLIrs199473058
Exacrs199473058
Gnomadrs199473058
Varsomers199473058
LitVarrs199473058
Maprs199473058
PheGenIrs199473058
Biobankrs199473058
1000 genomesrs199473058
hgdprs199473058
ensemblrs199473058
geneviewrs199473058
scholarrs199473058
googlers199473058
pharmgkbrs199473058
gwascentralrs199473058
openSNPrs199473058
23andMers199473058
SNPshotrs199473058
SNPdbers199473058
MSV3drs199473058
GWAS Ctlgrs199473058
Max Magnitude6
ClinVar
Risk rs199473058(A;A)
Alt rs199473058(A;A)
Reference Rs199473058(G;G)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38671832C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058583.2,