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rs199473072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473072(C;T)
Make rs199473072(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38613773
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473072
dbSNP (classic)rs199473072
ClinGenrs199473072
ebirs199473072
HLIrs199473072
Exacrs199473072
Gnomadrs199473072
Varsomers199473072
LitVarrs199473072
Maprs199473072
PheGenIrs199473072
Biobankrs199473072
1000 genomesrs199473072
hgdprs199473072
ensemblrs199473072
geneviewrs199473072
scholarrs199473072
googlers199473072
pharmgkbrs199473072
gwascentralrs199473072
openSNPrs199473072
23andMers199473072
SNPshotrs199473072
SNPdbers199473072
MSV3drs199473072
GWAS Ctlgrs199473072
Max Magnitude0
ClinVar
Risk rs199473072(T;T)
Alt rs199473072(T;T)
Reference Rs199473072(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Cardiac conduction defect not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Cardiac conduction defect, nonspecific not provided Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38655264G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058835.3, RCV000148865.1, RCV000182942.4, RCV000469869.1,