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rs397508111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Romano-Ward Long QT Syndrome
(G;G) 0 common in clinvar


Make rs397508111(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2528023
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508111
dbSNP (classic)rs397508111
ClinGenrs397508111
ebirs397508111
HLIrs397508111
Exacrs397508111
Gnomadrs397508111
Varsomers397508111
LitVarrs397508111
Maprs397508111
PheGenIrs397508111
Biobankrs397508111
1000 genomesrs397508111
hgdprs397508111
ensemblrs397508111
geneviewrs397508111
scholarrs397508111
googlers397508111
pharmgkbrs397508111
gwascentralrs397508111
openSNPrs397508111
23andMers397508111
SNPshotrs397508111
SNPdbers397508111
MSV3drs397508111
GWAS Ctlgrs397508111
Max Magnitude5
ClinVar
Risk rs397508111(A;A) rs397508111(C;C)
Alt rs397508111(A;A) rs397508111(C;C)
Reference Rs397508111(G;G)
Significance Pathogenic
Disease Long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2549253G>A; NC_000011.9:g.2549253G>C
CLNSRC
CLNACC RCV000046061.3, RCV000182254.3, RCV000046062.2, RCV000493008.1,