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rs199473291

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473291(C;C)
Make rs199473291(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551417
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473291
ebirs199473291
HLIrs199473291
Exacrs199473291
Varsomers199473291
Maprs199473291
PheGenIrs199473291
hapmaprs199473291
1000 genomesrs199473291
hgdprs199473291
ensemblrs199473291
gopubmedrs199473291
geneviewrs199473291
scholarrs199473291
googlers199473291
pharmgkbrs199473291
gwascentralrs199473291
openSNPrs199473291
23andMers199473291
23andMe allrs199473291
SNP Nexus

SNPshotrs199473291
SNPdbers199473291
MSV3drs199473291
GWAS Ctlgrs199473291
Max Magnitude0
ClinVar
Risk rs199473291(C,G;C,G)
Alt rs199473291(C,G;C,G)
Reference rs199473291(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592908A>C; NC_000003.11:g.38592908A>G
CLNSRC ClinVar
CLNACC RCV000058731.2, RCV000058730.2,