Gene: KCNQ1-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
GC 0.700 CausalMutation CLINVAR Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 25187895

2014
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
GC 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
GC 0.700 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
GC 0.700 CausalMutation CLINVAR Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. 19825999

2009
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
GC 0.700 CausalMutation CLINVAR The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. 16981927

2006
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
GC 0.700 CausalMutation CLINVAR Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 10024302

1999
dbSNP: rs1464992494
rs1464992494
KCNQ1 ; KCNQ1-AS1
CG 0.700 CausalMutation CLINVAR

dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs397508105
rs397508105
KCNQ1 ; KCNQ1-AS1
CA 0.700 GeneticVariation CLINVAR