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rs397508130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397508130(G;T)
Make rs397508130(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572987
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508130
dbSNP (classic)rs397508130
ClinGenrs397508130
ebirs397508130
HLIrs397508130
Exacrs397508130
Gnomadrs397508130
Varsomers397508130
LitVarrs397508130
Maprs397508130
PheGenIrs397508130
Biobankrs397508130
1000 genomesrs397508130
hgdprs397508130
ensemblrs397508130
geneviewrs397508130
scholarrs397508130
googlers397508130
pharmgkbrs397508130
gwascentralrs397508130
openSNPrs397508130
23andMers397508130
SNPshotrs397508130
SNPdbers397508130
MSV3drs397508130
GWAS Ctlgrs397508130
Max Magnitude0
ClinVar
Risk rs397508130(T;T)
Alt rs397508130(T;T)
Reference Rs397508130(G;G)
Significance Pathogenic
Disease Long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype not provided
Reversed 0
HGVS NC_000011.9:g.2594217G>T
CLNSRC ClinVar
CLNACC RCV000046155.2, RCV000182134.1,