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rs397508128

From SNPedia

Merged intors397508127
Orientationplus
Stabilizedplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs397508128(-;-)
Make rs397508128(-;CTC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2572893
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508128
ClinGenrs397508128
ebirs397508128
HLIrs397508128
Exacrs397508128
Varsomers397508128
Maprs397508128
PheGenIrs397508128
hapmaprs397508128
1000 genomesrs397508128
hgdprs397508128
ensemblrs397508128
gopubmedrs397508128
geneviewrs397508128
scholarrs397508128
googlers397508128
pharmgkbrs397508128
gwascentralrs397508128
openSNPrs397508128
23andMers397508128
23andMe allrs397508128
SNP Nexus

SNPshotrs397508128
SNPdbers397508128
MSV3drs397508128
GWAS Ctlgrs397508128
StatusMerged into rs397508127
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs397508128(CTC;CTC)
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,