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rs199473147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473147(C;T)
Make rs199473147(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38597889
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473147
ebirs199473147
HLIrs199473147
Exacrs199473147
Varsomers199473147
Maprs199473147
PheGenIrs199473147
hapmaprs199473147
1000 genomesrs199473147
hgdprs199473147
ensemblrs199473147
gopubmedrs199473147
geneviewrs199473147
scholarrs199473147
googlers199473147
pharmgkbrs199473147
gwascentralrs199473147
openSNPrs199473147
23andMers199473147
23andMe allrs199473147
SNP Nexus

SNPshotrs199473147
SNPdbers199473147
MSV3drs199473147
GWAS Ctlgrs199473147
Max Magnitude0
ClinVar
Risk rs199473147(T;T)
Alt rs199473147(T;T)
Reference rs199473147(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38639380G>A
CLNSRC ClinVar
CLNACC RCV000058480.2, RCV000171571.1, RCV000182996.2,