rs139632595, EXOSC9

N. diseases: 19
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.
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
2 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.800 1.000 1 2018 2018
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
6 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Diffuse white matter abnormalities
CUI: C4024923
Disease: Diffuse white matter abnormalities
4 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Elevated brain choline level by MRS
CUI: C4022763
Disease: Elevated brain choline level by MRS
1 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Elevated brain lactate level by MRS
CUI: C4022762
Disease: Elevated brain lactate level by MRS
2 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Hyperextensible hand joints
CUI: C1856877
Disease: Hyperextensible hand joints
3 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Microbrachycephaly
CUI: C1855905
Disease: Microbrachycephaly
1 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Multiple palmar creases
CUI: C1861872
Disease: Multiple palmar creases
2 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Reduced brain N-acetyl aspartate level by MRS
8 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0