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

rs397508112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397508112(-;-)
Make rs397508112(-;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570638
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508112
dbSNP (classic)rs397508112
ClinGenrs397508112
ebirs397508112
HLIrs397508112
Exacrs397508112
Gnomadrs397508112
Varsomers397508112
LitVarrs397508112
Maprs397508112
PheGenIrs397508112
Biobankrs397508112
1000 genomesrs397508112
hgdprs397508112
ensemblrs397508112
geneviewrs397508112
scholarrs397508112
googlers397508112
pharmgkbrs397508112
gwascentralrs397508112
openSNPrs397508112
23andMers397508112
SNPshotrs397508112
SNPdbers397508112
MSV3drs397508112
GWAS Ctlgrs397508112
Max Magnitude0
ClinVar
Risk rs397508112(-;-)
Alt rs397508112(-;-)
Reference Rs397508112(T;T)
Significance Pathogenic
Disease Long QT syndrome not provided Jervell and Lange-Nielsen syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype not provided Jervell and Lange-Nielsen syndrome
Reversed 0
HGVS NC_000011.9:g.2591868delT
CLNSRC ClinVar
CLNACC RCV000046064.2, RCV000182264.3, RCV000217623.1,