Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1390943
rs1390943
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C2698399
Disease:
Myeloperoxidase Measurement 		G 0.800 GeneticVariation GWASDB Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
dbSNP: rs1390943
rs1390943
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C2698399
Disease:
Myeloperoxidase Measurement 		G 0.800 GeneticVariation GWASCAT Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
dbSNP: rs730882177
rs730882177
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4225321
Disease:
ZIMMERMANN-LABAND SYNDROME 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs730882177
rs730882177
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4225321
Disease:
ZIMMERMANN-LABAND SYNDROME 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs794729667
rs794729667
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C2675730
Disease:
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.710 GeneticVariation BEFREE We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. 31257146 2019
dbSNP: rs794729667
rs794729667
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C2675730
Disease:
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		T 0.710 CausalMutation CLINVAR
dbSNP: rs1106634
rs1106634
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. 20038947 2011
dbSNP: rs1135401772
rs1135401772
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4225321
Disease:
ZIMMERMANN-LABAND SYNDROME 2 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135401772
rs1135401772
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C1843367
Disease:
Poor school performance 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs730882177
rs730882177
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4551773
Disease:
ZIMMERMANN-LABAND SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1106634
rs1106634
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C1842981
Disease:
NEUROTICISM 		0.010 GeneticVariation BEFREE We investigated the effect of rs1106634 of the ATPV1B2 gene encoding the vacuolar H+ATPase on lifetime and current depression and the possible mediating role of neuroticism by logistic and linear regression in a white European general sample of 2226 subjects. 27824360 2016
dbSNP: rs1106634
rs1106634
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C0344315
Disease:
Depressed mood 		0.010 GeneticVariation BEFREE The ATP6V1B2 rs1106634 A allele had a significant effect on lifetime but not on current depression. 27824360 2016
dbSNP: rs1106634
rs1106634
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C0011581
Disease:
Depressive disorder 		0.010 GeneticVariation BEFREE The ATP6V1B2 rs1106634 A allele had a significant effect on lifetime but not on current depression. 27824360 2016
dbSNP: rs1106634
rs1106634
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C0011570
Disease:
Mental Depression 		0.010 GeneticVariation BEFREE The ATP6V1B2 rs1106634 A allele had a significant effect on lifetime but not on current depression. 27824360 2016