Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200856070
rs200856070
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C2751089
Disease:
Brugada Syndrome 6 		C 0.700 GeneticVariation CLINVAR KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram. 22987075 2012
dbSNP: rs34604640
rs34604640
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs34604640
rs34604640
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs34604640
rs34604640
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs34604640
rs34604640
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs200856070
rs200856070
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C2751089
Disease:
Brugada Syndrome 6 		C 0.700 GeneticVariation CLINVAR Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. 19306396 2009
dbSNP: rs121908441
rs121908441
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C2751089
Disease:
Brugada Syndrome 6 		T 0.700 CausalMutation CLINVAR
dbSNP: rs17215437
rs17215437
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C1279412
Disease:
periodic paralysis (finding) 		0.020 GeneticVariation BEFREE Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 15037716 2004
dbSNP: rs17215437
rs17215437
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0030443
Disease:
Familial Periodic Paralysis 		0.020 GeneticVariation BEFREE Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 15037716 2004
dbSNP: rs17215437
rs17215437
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C1279412
Disease:
periodic paralysis (finding) 		0.020 GeneticVariation BEFREE These observations weaken the proposal that MiRP2-R83H causes periodic paralysis. 14504341 2003
dbSNP: rs17215437
rs17215437
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0030443
Disease:
Familial Periodic Paralysis 		0.020 GeneticVariation BEFREE These observations weaken the proposal that MiRP2-R83H causes periodic paralysis. 14504341 2003
dbSNP: rs773287275
rs773287275
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0340489
Disease:
Lone atrial fibrillation 		0.010 GeneticVariation BEFREE KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. 18209471 2008
dbSNP: rs17215437
rs17215437
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0238357
Disease:
Hyperkalemic periodic paralysis 		0.010 GeneticVariation BEFREE Last, because hyperkalemic PP has been described to be associated with an R83H mutation of a MiRP2 potassium channel subunit, evidence refuting disease-causality in this case will be discussed. 17395131 2007
dbSNP: rs17215437
rs17215437
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0238358
Disease:
Hypokalemic periodic paralysis 		0.010 GeneticVariation BEFREE R83H was recently found in two FHypoKPP unrelated families, in which the mutant decreased outward potassium flux, resulting in a more positive resting membrane potential. 12414843 2002