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rs397508122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397508122(A;A)
Make rs397508122(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2571408
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508122
dbSNP (classic)rs397508122
ClinGenrs397508122
ebirs397508122
HLIrs397508122
Exacrs397508122
Gnomadrs397508122
Varsomers397508122
LitVarrs397508122
Maprs397508122
PheGenIrs397508122
Biobankrs397508122
1000 genomesrs397508122
hgdprs397508122
ensemblrs397508122
geneviewrs397508122
scholarrs397508122
googlers397508122
pharmgkbrs397508122
gwascentralrs397508122
openSNPrs397508122
23andMers397508122
SNPshotrs397508122
SNPdbers397508122
MSV3drs397508122
GWAS Ctlgrs397508122
Max Magnitude0
ClinVar
Risk rs397508122(A;A)
Alt rs397508122(A;A)
Reference Rs397508122(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.2592638G>A
CLNSRC
CLNACC RCV000046104.2, RCV000182098.2,