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rs199473315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473315(A;A)
Make rs199473315(A;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551015
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473315
ebirs199473315
HLIrs199473315
Exacrs199473315
Varsomers199473315
Maprs199473315
PheGenIrs199473315
hapmaprs199473315
1000 genomesrs199473315
hgdprs199473315
ensemblrs199473315
gopubmedrs199473315
geneviewrs199473315
scholarrs199473315
googlers199473315
pharmgkbrs199473315
gwascentralrs199473315
openSNPrs199473315
23andMers199473315
23andMe allrs199473315
SNP Nexus

SNPshotrs199473315
SNPdbers199473315
MSV3drs199473315
GWAS Ctlgrs199473315
Max Magnitude0
ClinVar
Risk rs199473315(A;A)
Alt rs199473315(A;A)
Reference rs199473315(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592506A>T
CLNSRC ClinVar
CLNACC RCV000058774.2,