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rs199473268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473268(G;T)
Make rs199473268(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38555683
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473268
ebirs199473268
HLIrs199473268
Exacrs199473268
Varsomers199473268
Maprs199473268
PheGenIrs199473268
hapmaprs199473268
1000 genomesrs199473268
hgdprs199473268
ensemblrs199473268
gopubmedrs199473268
geneviewrs199473268
scholarrs199473268
googlers199473268
pharmgkbrs199473268
gwascentralrs199473268
openSNPrs199473268
23andMers199473268
23andMe allrs199473268
SNP Nexus

SNPshotrs199473268
SNPdbers199473268
MSV3drs199473268
GWAS Ctlgrs199473268
Max Magnitude0
ClinVar
Risk rs199473268(T;T)
Alt rs199473268(T;T)
Reference rs199473268(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.38597174C>A
CLNSRC ClinVar
CLNACC RCV000058687.2,