Disease: Long Qt Syndrome 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473364
rs199473364
Entrez Id: 9992;105372791
Gene Symbol: KCNE2;LOC105372791
KCNE2;LOC105372791
CUI: C3150953
Disease:
Long Qt Syndrome 6 		0.700 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
dbSNP: rs199473364
rs199473364
Entrez Id: 9992;105372791
Gene Symbol: KCNE2;LOC105372791
KCNE2;LOC105372791
CUI: C3150953
Disease:
Long Qt Syndrome 6 		0.700 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
dbSNP: rs199473364
rs199473364
Entrez Id: 9992;105372791
Gene Symbol: KCNE2;LOC105372791
KCNE2;LOC105372791
CUI: C3150953
Disease:
Long Qt Syndrome 6 		0.700 GeneticVariation UNIPROT Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. 12185453 2002
dbSNP: rs199473364
rs199473364
Entrez Id: 9992;105372791
Gene Symbol: KCNE2;LOC105372791
KCNE2;LOC105372791
CUI: C3150953
Disease:
Long Qt Syndrome 6 		0.700 GeneticVariation UNIPROT MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 10219239 1999