Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR The study included 19 Swedish p.R518X index families, ascertained by molecular genetics methods (101 mutation-carriers, whereof 15 JLNS cases and 86 LQTS cases). 24552659

2014
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

2012
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999
dbSNP: rs17215500
rs17215500
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963

1999