Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933384
rs28933384
KCNE1
0.800 GeneticVariation UNIPROT Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease. 21676880

2011
dbSNP: rs28933384
rs28933384
KCNE1
0.800 GeneticVariation UNIPROT Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 10400998

1999
dbSNP: rs28933384
rs28933384
KCNE1
0.800 GeneticVariation UNIPROT KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
dbSNP: rs28933384
rs28933384
KCNE1
0.800 GeneticVariation UNIPROT IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. 9328483

1997
dbSNP: rs28933384
rs28933384
KCNE1
A 0.800 CausalMutation CLINVAR