Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. 23130128

2012
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. 19490272

2009
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998
dbSNP: rs179489
rs179489
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		C 0.700 CausalMutation CLINVAR