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rs199473054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473054(A;A)
Make rs199473054(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38630420
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473054
dbSNP (classic)rs199473054
ClinGenrs199473054
ebirs199473054
HLIrs199473054
Exacrs199473054
Gnomadrs199473054
Varsomers199473054
LitVarrs199473054
Maprs199473054
PheGenIrs199473054
Biobankrs199473054
1000 genomesrs199473054
hgdprs199473054
ensemblrs199473054
geneviewrs199473054
scholarrs199473054
googlers199473054
pharmgkbrs199473054
gwascentralrs199473054
openSNPrs199473054
23andMers199473054
SNPshotrs199473054
SNPdbers199473054
MSV3drs199473054
GWAS Ctlgrs199473054
Max Magnitude0
ClinVar
Risk rs199473054(A;A) rs199473054(C;C)
Alt rs199473054(A;A) rs199473054(C;C)
Reference Rs199473054(G;G)
Significance Probable-Pathogenic
Disease Brugada syndrome not provided not specified
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not provided not specified
Reversed 1
HGVS NC_000003.11:g.38671911C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058531.2, RCV000182923.2, RCV000455416.1,