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rs199473220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473220(G;T)
Make rs199473220(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38562422
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473220
dbSNP (classic)rs199473220
ClinGenrs199473220
ebirs199473220
HLIrs199473220
Exacrs199473220
Gnomadrs199473220
Varsomers199473220
LitVarrs199473220
Maprs199473220
PheGenIrs199473220
Biobankrs199473220
1000 genomesrs199473220
hgdprs199473220
ensemblrs199473220
geneviewrs199473220
scholarrs199473220
googlers199473220
pharmgkbrs199473220
gwascentralrs199473220
openSNPrs199473220
23andMers199473220
SNPshotrs199473220
SNPdbers199473220
MSV3drs199473220
GWAS Ctlgrs199473220
Max Magnitude0
ClinVar
Risk rs199473220(T;T)
Alt rs199473220(T;T)
Reference Rs199473220(G;G)
Significance Probable-Pathogenic
Disease Brugada syndrome Cardiovascular phenotype
Variation info
Gene SCN5A
CLNDBN Brugada syndrome Cardiovascular phenotype
Reversed 1
HGVS NC_000003.11:g.38603913C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058616.3, RCV000252945.1,