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rs199473043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473043(G;T)
Make rs199473043(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38633282
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473043
ebirs199473043
HLIrs199473043
Exacrs199473043
Varsomers199473043
Maprs199473043
PheGenIrs199473043
hapmaprs199473043
1000 genomesrs199473043
hgdprs199473043
ensemblrs199473043
gopubmedrs199473043
geneviewrs199473043
scholarrs199473043
googlers199473043
pharmgkbrs199473043
gwascentralrs199473043
openSNPrs199473043
23andMers199473043
23andMe allrs199473043
SNP Nexus

SNPshotrs199473043
SNPdbers199473043
MSV3drs199473043
GWAS Ctlgrs199473043
Max Magnitude0
ClinVar
Risk rs199473043(T;T)
Alt rs199473043(T;T)
Reference rs199473043(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.38674773C>A
CLNSRC ClinVar
CLNACC RCV000058520.2,