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rs397508127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs397508127(-;-)
Make rs397508127(-;TCC)
Make rs397508127(TCC;TCC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2572891
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508127
ClinGenrs397508127
ebirs397508127
HLIrs397508127
Exacrs397508127
Varsomers397508127
Maprs397508127
PheGenIrs397508127
hapmaprs397508127
1000 genomesrs397508127
hgdprs397508127
ensemblrs397508127
gopubmedrs397508127
geneviewrs397508127
scholarrs397508127
googlers397508127
pharmgkbrs397508127
gwascentralrs397508127
openSNPrs397508127
23andMers397508127
23andMe allrs397508127
SNP Nexus

SNPshotrs397508127
SNPdbers397508127
MSV3drs397508127
GWAS Ctlgrs397508127
Merged fromRs397508128
Max Magnitude0
ClinVar
Risk rs397508127(-;-) Rs397508127(CTC;CTC)
Alt rs397508127(-;-) Rs397508127(CTC;CTC)
Reference rs397508127(TCC;TCC)
Significance Pathogenic
Disease Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2594123_2594125delCTC
CLNSRC
CLNACC RCV000046139.2, RCV000046140.2, RCV000182333.2, RCV000239635.1,