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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
ebirs199473072
HLIrs199473072
Exacrs199473072
Varsomers199473072
Maprs199473072
PheGenIrs199473072
hapmaprs199473072
1000 genomesrs199473072
hgdprs199473072
ensemblrs199473072
gopubmedrs199473072
geneviewrs199473072
scholarrs199473072
googlers199473072
pharmgkbrs199473072
gwascentralrs199473072
openSNPrs199473072
23andMers199473072
23andMe allrs199473072
SNP Nexus

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
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Cardiac conduction defect, nonspecific not provided
Reversed 1
HGVS NC_000003.11:g.38655264G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000058835.2, RCV000148865.1, RCV000182942.2,