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rs193922365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922365(C;T)
Make rs193922365(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572970
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs193922365
ebirs193922365
HLIrs193922365
Exacrs193922365
Varsomers193922365
Maprs193922365
PheGenIrs193922365
hapmaprs193922365
1000 genomesrs193922365
hgdprs193922365
ensemblrs193922365
gopubmedrs193922365
geneviewrs193922365
scholarrs193922365
googlers193922365
pharmgkbrs193922365
gwascentralrs193922365
openSNPrs193922365
23andMers193922365
23andMe allrs193922365
SNP Nexus

SNPshotrs193922365
SNPdbers193922365
MSV3drs193922365
GWAS Ctlgrs193922365
Max Magnitude0
ClinVar
Risk rs193922365(A,T;A,T)
Alt rs193922365(A,T;A,T)
Reference rs193922365(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594200C>A; NC_000011.9:g.2594200C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000057791.2, RCV000182129.2, RCV000030111.1, RCV000057792.2,


[PMID 20486] Early effects of hypervitaminosis A on gluconeogenic activity and amino acid metabolizing enzymes of rat liver.


[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.


[PMID 19490272] Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.


[PMID 19808498OA-icon.png] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.