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rs199473293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473293(A;A)
Make rs199473293(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551373
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473293
ebirs199473293
HLIrs199473293
Exacrs199473293
Varsomers199473293
Maprs199473293
PheGenIrs199473293
hapmaprs199473293
1000 genomesrs199473293
hgdprs199473293
ensemblrs199473293
gopubmedrs199473293
geneviewrs199473293
scholarrs199473293
googlers199473293
pharmgkbrs199473293
gwascentralrs199473293
openSNPrs199473293
23andMers199473293
23andMe allrs199473293
SNP Nexus

SNPshotrs199473293
SNPdbers199473293
MSV3drs199473293
GWAS Ctlgrs199473293
Max Magnitude0
ClinVar
Risk rs199473293(A,C;A,C)
Alt rs199473293(A,C;A,C)
Reference rs199473293(G;G)
Significance Pathogenic
Disease not provided Congenital long QT syndrome Long QT syndrome
Variation info
Gene SCN5A
CLNDBN not provided Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592864C>G; NC_000003.11:g.38592864C>T
CLNSRC ClinVar
CLNACC RCV000183095.2, RCV000058734.2, RCV000190217.1,