rs121912594, CPS1

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
3 0.882 0.160 2 210675762 missense variant A/C snv 0.700 0
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
8 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2019 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
Necrotizing enterocolitis in fetus OR newborn
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
26 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007