rs121912507, KCNH2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 CausalMutation CLINVAR
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633 2000
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Missense mutation in the pore region of HERG causes familial long QT syndrome. 8635257 1996
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. 11170080 2001
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. 12062363 2002
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933 2000
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.820 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998