Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908590
rs121908590
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C2677106
Disease:
Atrial Fibrillation, Familial, 7
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908592
rs121908592
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C2677106
Disease:
Atrial Fibrillation, Familial, 7
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908593
rs121908593
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C2677106
Disease:
Atrial Fibrillation, Familial, 7
A 0.700 CausalMutation CLINVAR
dbSNP: rs148708451
rs148708451
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT
dbSNP: rs587777336
rs587777336
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C2677106
Disease:
Atrial Fibrillation, Familial, 7
G 0.700 CausalMutation CLINVAR
dbSNP: rs202117321
rs202117321
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0340489
Disease:
Lone atrial fibrillation
0.010 GeneticVariation BEFREE A recent study has identified six novel genetic variations (D322H, E48G, A305T, D469E, Y155C, P488S) in KCNA5 (encoding Kv1.5 which carries the atrial-specific ultra-rapid delayed rectifier current, I<sub>Kur</sub>) in patients with early onset of lone atrial fibrillation. 28803858 2017
dbSNP: rs10744676
rs10744676
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE Our results provide the first evidence for an association between the KCNA5 rs10744676 variant and PAH associated with SSc. 20556823 2010
dbSNP: rs10744676
rs10744676
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C3203102
Disease:
Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE Our results provide the first evidence for an association between the KCNA5 rs10744676 variant and PAH associated with SSc. 20556823 2010
dbSNP: rs121908591
rs121908591
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE Among them, T527M was found in two AF families, and A576V and E610K in two other AF families, respectively. 19343045 2009
dbSNP: rs121908593
rs121908593
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE Among them, T527M was found in two AF families, and A576V and E610K in two other AF families, respectively. 19343045 2009
dbSNP: rs1370940194
rs1370940194
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0003811
Disease:
Cardiac Arrhythmia
0.010 GeneticVariation BEFREE In two patients with arrhythmia and cardiac arrest, we identified the point mutations P91L and E33V in the KCNA5 gene encoding the Kv1.5 potassium channel that has not previously been associated with arrhythmia. 17266934 2007
dbSNP: rs71584818
rs71584818
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C0003811
Disease:
Cardiac Arrhythmia
0.010 GeneticVariation BEFREE In two patients with arrhythmia and cardiac arrest, we identified the point mutations P91L and E33V in the KCNA5 gene encoding the Kv1.5 potassium channel that has not previously been associated with arrhythmia. 17266934 2007