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rs199473094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473094(C;T)
Make rs199473094(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38606791
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473094
ebirs199473094
HLIrs199473094
Exacrs199473094
Varsomers199473094
Maprs199473094
PheGenIrs199473094
hapmaprs199473094
1000 genomesrs199473094
hgdprs199473094
ensemblrs199473094
gopubmedrs199473094
geneviewrs199473094
scholarrs199473094
googlers199473094
pharmgkbrs199473094
gwascentralrs199473094
openSNPrs199473094
23andMers199473094
23andMe allrs199473094
SNP Nexus

SNPshotrs199473094
SNPdbers199473094
MSV3drs199473094
GWAS Ctlgrs199473094
Max Magnitude0
ClinVar
Risk rs199473094(T;T)
Alt rs199473094(T;T)
Reference rs199473094(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.38648282G>A
CLNSRC ClinVar
CLNACC RCV000058381.2,