Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728537
rs794728537
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 25187895 2014
dbSNP: rs794728537
rs794728537
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 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: rs794728537
rs794728537
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 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: rs794728537
rs794728537
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. 19825999 2009
dbSNP: rs794728537
rs794728537
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. 16981927 2006
dbSNP: rs794728537
rs794728537
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		T 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