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rs199473290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473290(C;T)
Make rs199473290(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551424
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473290
ebirs199473290
HLIrs199473290
Exacrs199473290
Varsomers199473290
Maprs199473290
PheGenIrs199473290
hapmaprs199473290
1000 genomesrs199473290
hgdprs199473290
ensemblrs199473290
gopubmedrs199473290
geneviewrs199473290
scholarrs199473290
googlers199473290
pharmgkbrs199473290
gwascentralrs199473290
openSNPrs199473290
23andMers199473290
23andMe allrs199473290
SNP Nexus

SNPshotrs199473290
SNPdbers199473290
MSV3drs199473290
GWAS Ctlgrs199473290
Max Magnitude0
ClinVar
Risk rs199473290(T;T)
Alt rs199473290(T;T)
Reference rs199473290(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.38592915G>A
CLNSRC ClinVar
CLNACC RCV000058729.2,