Source: ALL

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: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.800 1.000 6 2011 2018
dbSNP: rs387907061
rs387907061
AARS2
1.000 6 44311507 missense variant A/C snv 1.2E-05 1.4E-05
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.800 1.000 1 2011 2011
dbSNP: rs543267101
rs543267101
AARS2 ; TMEM151B
1.000 6 44300612 missense variant C/T snv 4.0E-05 4.2E-05
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.800 1.000 1 2014 2014
dbSNP: rs587777590
rs587777590
AARS2
1.000 6 44313175 missense variant A/C snv
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.800 1.000 1 2014 2014
dbSNP: rs587777592
rs587777592
AARS2 ; TMEM151B
1.000 6 44306367 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.800 1.000 1 2014 2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2011 2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2011 2014
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2011 2014
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2011 2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis 		0.700 0
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		0.700 0
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.700 0
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.700 0
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		0.700 0
dbSNP: rs146512155
rs146512155
AARS2 ; TMEM151B
1.000 6 44305099 missense variant C/G;T snv 2.8E-04; 3.2E-05
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.700 0
dbSNP: rs1554147776
rs1554147776
AARS2 ; TMEM151B
1.000 6 44302810 missense variant C/T snv
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.700 0
dbSNP: rs1561938413
rs1561938413
AARS2 ; TMEM151B
1.000 6 44303404 missense variant T/G snv
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.700 0
dbSNP: rs200187887
rs200187887
AARS2 ; TMEM151B
1.000 6 44307304 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.700 0
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: C0031039
Disease: Pericardial effusion
Pericardial effusion 		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: C0020224
Disease: Polyhydramnios
Polyhydramnios 		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
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