Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1414143303
rs1414143303
CPS1
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		T 0.700 CausalMutation CLINVAR Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. 17310273

2007
dbSNP: rs1414143303
rs1414143303
CPS1
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		T 0.700 CausalMutation CLINVAR Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. 15617192

2004
dbSNP: rs1414143303
rs1414143303
CPS1
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		T 0.700 CausalMutation CLINVAR