Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
GC | 0.700 | CausalMutation | CLINVAR | Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. | 25187895 | 2014 |
|||
|
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 |
|||
|
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 |
|||
|
GC | 0.700 | CausalMutation | CLINVAR | Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. | 19825999 | 2009 |
|||
|
GC | 0.700 | CausalMutation | CLINVAR | The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. | 16981927 | 2006 |
|||
|
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 |
|||
|
CG | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
CA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | In elderly females, G643S might be an independent risk factor for secondary LQTS by causing a greater TDR. | 16723781 | 2006 |
||||
|
0.010 | GeneticVariation | BEFREE | Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. | 15500450 | 2005 |