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rs199473153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473153(A;A)
Make rs199473153(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38597737
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473153
dbSNP (classic)rs199473153
ClinGenrs199473153
ebirs199473153
HLIrs199473153
Exacrs199473153
Gnomadrs199473153
Varsomers199473153
LitVarrs199473153
Maprs199473153
PheGenIrs199473153
Biobankrs199473153
1000 genomesrs199473153
hgdprs199473153
ensemblrs199473153
geneviewrs199473153
scholarrs199473153
googlers199473153
pharmgkbrs199473153
gwascentralrs199473153
openSNPrs199473153
23andMers199473153
SNPshotrs199473153
SNPdbers199473153
MSV3drs199473153
GWAS Ctlgrs199473153
Max Magnitude0
ClinVar
Risk rs199473153(A;A)
Alt rs199473153(A;A)
Reference Rs199473153(G;G)
Significance Pathogenic
Disease Brugada syndrome not provided Cardiovascular phenotype
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000003.11:g.38639228C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058491.2, RCV000182999.2, RCV000244833.1,