Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515476
rs397515476
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. 28895081 2018
dbSNP: rs797045634
rs797045634
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. 28895081 2018
dbSNP: rs12044963
rs12044963
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C2699541
Disease:
Cytokine Measurement 		A 0.800 GeneticVariation GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs12044963
rs12044963
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C2699541
Disease:
Cytokine Measurement 		A 0.800 GeneticVariation GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs150401343
rs150401343
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C4225340
Disease:
BRUGADA SYNDROME 9 		0.800 GeneticVariation UNIPROT Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 22457051 2012
dbSNP: rs397515476
rs397515476
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. 23280838 2012
dbSNP: rs397515476
rs397515476
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT Mutations in KCND3 cause spinocerebellar ataxia type 22. 23280837 2012
dbSNP: rs797045634
rs797045634
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. 23280838 2012
dbSNP: rs797045634
rs797045634
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT Mutations in KCND3 cause spinocerebellar ataxia type 22. 23280837 2012
dbSNP: rs150401343
rs150401343
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C4225340
Disease:
BRUGADA SYNDROME 9 		0.800 GeneticVariation UNIPROT Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 21349352 2011
dbSNP: rs397515476
rs397515476
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs797045634
rs797045634
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs150401343
rs150401343
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C4225340
Disease:
BRUGADA SYNDROME 9 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs150401343
rs150401343
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C4225340
Disease:
BRUGADA SYNDROME 9 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397515476
rs397515476
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		G 0.800 CausalMutation CLINVAR
dbSNP: rs786205867
rs786205867
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C4225340
Disease:
BRUGADA SYNDROME 9 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205867
rs786205867
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C4225340
Disease:
BRUGADA SYNDROME 9 		T 0.800 CausalMutation CLINVAR
dbSNP: rs797045634
rs797045634
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1846367
Disease:
Spinocerebellar ataxia 19 		A 0.800 CausalMutation CLINVAR
dbSNP: rs12033257
rs12033257
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs2365669
rs2365669
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2618039
rs2618039
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs75013985
rs75013985
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C0429087
Disease:
Electrocardiogram: P-R interval 		G 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. 30679814 2019
dbSNP: rs12044963
rs12044963
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C0004238
Disease:
Atrial Fibrillation 		T 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs1443926
rs1443926
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs1545300
rs1545300
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
CUI: C0004238
Disease:
Atrial Fibrillation 		C 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018