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rs199473201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473201(C;T)
Make rs199473201(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38575403
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473201
ebirs199473201
HLIrs199473201
Exacrs199473201
Varsomers199473201
Maprs199473201
PheGenIrs199473201
hapmaprs199473201
1000 genomesrs199473201
hgdprs199473201
ensemblrs199473201
gopubmedrs199473201
geneviewrs199473201
scholarrs199473201
googlers199473201
pharmgkbrs199473201
gwascentralrs199473201
openSNPrs199473201
23andMers199473201
23andMe allrs199473201
SNP Nexus

SNPshotrs199473201
SNPdbers199473201
MSV3drs199473201
GWAS Ctlgrs199473201
Max Magnitude0
ClinVar
Risk rs199473201(A,T;A,T)
Alt rs199473201(A,T;A,T)
Reference rs199473201(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38616894G>A
CLNSRC ClinVar
CLNACC RCV000058577.2,