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rs199473059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473059(C;C)
Make rs199473059(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38630330
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473059
ebirs199473059
HLIrs199473059
Exacrs199473059
Varsomers199473059
Maprs199473059
PheGenIrs199473059
hapmaprs199473059
1000 genomesrs199473059
hgdprs199473059
ensemblrs199473059
gopubmedrs199473059
geneviewrs199473059
scholarrs199473059
googlers199473059
pharmgkbrs199473059
gwascentralrs199473059
openSNPrs199473059
23andMers199473059
23andMe allrs199473059
SNP Nexus

SNPshotrs199473059
SNPdbers199473059
MSV3drs199473059
GWAS Ctlgrs199473059
Max Magnitude0
ClinVar
Risk rs199473059(C;C)
Alt rs199473059(C;C)
Reference rs199473059(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38671821C>G
CLNSRC ClinVar
CLNACC RCV000058596.2,