rs587777589, AARS2

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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
8 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
Hydrops Fetalis, Non-Immune
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
22 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
Mixed respiratory and metabolic acidosis
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
3 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
Pericardial effusion
CUI: C0031039
Disease: Pericardial effusion
10 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0