Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203955
rs118203955
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		A 0.700 CausalMutation CLINVAR Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725

2007
dbSNP: rs118203956
rs118203956
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		A 0.700 CausalMutation CLINVAR Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725

2007
dbSNP: rs59490629
rs59490629
PDSS2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. 29221444

2017
dbSNP: rs59490629
rs59490629
PDSS2
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		0.700 GeneticVariation GWASCAT Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. 29221444

2017
dbSNP: rs61315837
rs61315837
PDSS2
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219

2012
dbSNP: rs7772518
rs7772518
PDSS2
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs782439454
rs782439454
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs9486594
rs9486594
PDSS2
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease. 25514360

2015