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rs199473553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473553(C;T)
Make rs199473553(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38633154
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473553
ebirs199473553
HLIrs199473553
Exacrs199473553
Varsomers199473553
Maprs199473553
PheGenIrs199473553
hapmaprs199473553
1000 genomesrs199473553
hgdprs199473553
ensemblrs199473553
gopubmedrs199473553
geneviewrs199473553
scholarrs199473553
googlers199473553
pharmgkbrs199473553
gwascentralrs199473553
openSNPrs199473553
23andMers199473553
23andMe allrs199473553
SNP Nexus

SNPshotrs199473553
SNPdbers199473553
MSV3drs199473553
GWAS Ctlgrs199473553
Max Magnitude0
ClinVar
Risk rs199473553(T;T)
Alt rs199473553(T;T)
Reference rs199473553(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.38674645G>A
CLNSRC ClinVar
CLNACC RCV000058428.2,