Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.700 0
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis 		0.700 0
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		0.700 0
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.700 0
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		0.700 0
dbSNP: rs587777589
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.700 0