Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231263
rs606231263
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0795905
Disease:
Cantu syndrome 		0.720 GeneticVariation BEFREE These SUR2[A478V] and Kir6.1[V65M] animals thus reiterate the key cardiovascular features seen in human CS. 30089727 2018
dbSNP: rs606231263
rs606231263
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0795905
Disease:
Cantu syndrome 		0.720 GeneticVariation BEFREE Here, we report on a patient with a de novo nonsynonymous KCNJ8 SNV (p.V65M) and Cantú syndrome, who tested negative for mutations in ABCC9. 24176758 2013
dbSNP: rs606231263
rs606231263
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0795905
Disease:
Cantu syndrome 		0.720 GeneticVariation UNIPROT
dbSNP: rs147316959
rs147316959
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0038644
Disease:
Sudden infant death syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs606231264
rs606231264
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0795905
Disease:
Cantu syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs72554071
rs72554071
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C1142166
Disease:
Brugada Syndrome (disorder) 		0.020 GeneticVariation BEFREE Our results support the hypothesis that KCNJ8 is a susceptibility gene for BrS and ERS and point to S422L as a possible hotspot mutation. 22056721 2012
dbSNP: rs72554071
rs72554071
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C2931783
Disease:
Amelogenesis imperfecta nephrocalcinosis 		0.020 GeneticVariation BEFREE Our results support the hypothesis that KCNJ8 is a susceptibility gene for BrS and ERS and point to S422L as a possible hotspot mutation. 22056721 2012
dbSNP: rs72554071
rs72554071
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C1142166
Disease:
Brugada Syndrome (disorder) 		0.020 GeneticVariation BEFREE These findings further implicate KCNJ8 as a novel J-wave syndrome susceptibility gene and a marked gain of function in the cardiac K(ATP) Kir6.1 channel secondary to KCNJ8-S422L as a novel pathogenic mechanism for the phenotypic expression of both BrS and ERS. 20558321 2010
dbSNP: rs72554071
rs72554071
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C2931783
Disease:
Amelogenesis imperfecta nephrocalcinosis 		0.020 GeneticVariation BEFREE These findings further implicate KCNJ8 as a novel J-wave syndrome susceptibility gene and a marked gain of function in the cardiac K(ATP) Kir6.1 channel secondary to KCNJ8-S422L as a novel pathogenic mechanism for the phenotypic expression of both BrS and ERS. 20558321 2010
dbSNP: rs72554071
rs72554071
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE The KCNJ8-S422L variant is associated with both increased AF susceptibility and ER indicating a role for Kir 6.1 K(atp) channel in both ventricular and atrial repolarization. 22562657 2012
dbSNP: rs72554071
rs72554071
Entrez Id: 3764;105369689
Gene Symbol: KCNJ8;LOC105369689
KCNJ8;LOC105369689
CUI: C0003811
Disease:
Cardiac Arrhythmia 		0.010 GeneticVariation BEFREE Although Kir6.1 is also present in atrial tissue, it is unknown whether this channel modulates atrial repolarization and hence whether the S422L mutation portends a greater risk of atrial arrhythmias. 22562657 2012