CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO ×
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: rs121912594
rs121912594 		0.882 0.160 2 210675762 missense variant A/C snv
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1414143303
rs1414143303 		1.000 0.120 2 210660512 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1553509010
rs1553509010 		1.000 0.120 2 210573379 frameshift variant -/AAGTGGTT delins
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		0.700 0