Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555454508
rs1555454508
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
ATC 0.700 CausalMutation CLINVAR

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273

2005

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923

2005

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709

2006

dbSNP: rs1012053
rs1012053
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
A 0.800 GeneticVariation GWASDB A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. 17486107

2008

dbSNP: rs1012053
rs1012053
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
A 0.800 GeneticVariation GWASCAT A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. 17486107

2008

dbSNP: rs420259
rs420259
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
A 0.810 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007

dbSNP: rs420259
rs420259
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
A 0.810 GeneticVariation GWASDB Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007

dbSNP: rs1705236
rs1705236
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.710 GeneticVariation GWASDB Whole-genome association study of bipolar disorder. 18317468

2008

dbSNP: rs8031287
rs8031287
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation GWASDB Whole-genome association study of bipolar disorder. 18317468

2008

dbSNP: rs729969
rs729969
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation GWASDB Whole-genome association study of bipolar disorder. 18317468

2008

dbSNP: rs4939921
rs4939921
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation GWASDB Whole-genome association study of bipolar disorder. 18317468

2008

dbSNP: rs17172438
rs17172438
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation GWASDB Whole-genome association study of bipolar disorder. 18317468

2008

dbSNP: rs10488140
rs10488140
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation GWASDB Whole-genome association study of bipolar disorder. 18317468

2008

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570

2008

dbSNP: rs113994095
rs113994095
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.700 CausalMutation CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008

dbSNP: rs10994336
rs10994336
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.900 GeneticVariation GWASDB To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 x 10(-9)) in ANK3 (ankyrin G). 18711365

2008

dbSNP: rs10994336
rs10994336
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
T 0.900 GeneticVariation GWASCAT To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 x 10(-9)) in ANK3 (ankyrin G). 18711365

2008

dbSNP: rs1006737
rs1006737
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
A 0.900 GeneticVariation GWASCAT Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. 18711365

2008

dbSNP: rs1006737
rs1006737
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
A 0.900 GeneticVariation GWASDB Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. 18711365

2008

dbSNP: rs12899449
rs12899449
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.800 GeneticVariation GWASCAT Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. 18711365

2008

dbSNP: rs12899449
rs12899449
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.800 GeneticVariation GWASDB Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. 18711365

2008