CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: Hyperammonemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		Pathological Conditions, Signs and Symptoms 0.030 0.667 3 2014 2019
dbSNP: rs121912594
rs121912594 		0.882 0.160 2 210675762 missense variant A/C snv
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019