Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TGA) 5 Romano-Ward Long QT Syndrome
Make rs397514449(TGA;TGA)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550984
GeneSCN5A
is asnp
is mentioned by
dbSNPrs397514449
dbSNP (classic)rs397514449
ClinGenrs397514449
ebirs397514449
HLIrs397514449
Exacrs397514449
Gnomadrs397514449
Varsomers397514449
LitVarrs397514449
Maprs397514449
PheGenIrs397514449
Biobankrs397514449
1000 genomesrs397514449
hgdprs397514449
ensemblrs397514449
geneviewrs397514449
scholarrs397514449
googlers397514449
pharmgkbrs397514449
gwascentralrs397514449
openSNPrs397514449
23andMers397514449
SNPshotrs397514449
SNPdbers397514449
MSV3drs397514449
GWAS Ctlgrs397514449
Max Magnitude5
ClinVar
Risk rs397514449(TGA;TGA)
Alt rs397514449(TGA;TGA)
Reference Rs397514449(-;-)
Significance Pathogenic
Disease Long QT syndrome 3 Brugada syndrome 1
Variation info
Gene SCN5A
CLNDBN Long QT syndrome 3 Brugada syndrome 1
Reversed 1
HGVS NC_000003.11:g.38592476_38592478dupTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009979.5, RCV000009980.5,