Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519331
rs1057519331
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C1845543
Disease:
Mental Retardation, X-Linked, with Epilepsy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918521
rs121918521
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C1845543
Disease:
Mental Retardation, X-Linked, with Epilepsy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397518480
rs397518480
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C3806722
Disease:
PARKINSONISM WITH SPASTICITY, X-LINKED 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918521
rs121918521
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C1136249
Disease:
Mental Retardation, X-Linked 		0.010 GeneticVariation BEFREE Another synonymous mutation in the same exon, c.321C>T (p.D107D), has a similar molecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH). 23595882 2013
dbSNP: rs2968915
rs2968915
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). 21157371 2011
dbSNP: rs2968915
rs2968915
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C0007820
Disease:
Cerebrovascular Disorders 		0.010 GeneticVariation BEFREE Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). 21157371 2011
dbSNP: rs2968915
rs2968915
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). 21157371 2011