Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728562
rs794728562
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 25187895

2014
dbSNP: rs794728562
rs794728562
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs794728562
rs794728562
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs794728562
rs794728562
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 10024302

1999