rs1085307993, GABRB2

N. diseases: 53
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.
EEG with irregular generalized spike and wave complexes
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
1 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Gluten intolerance
CUI: C4317045
Disease: Gluten intolerance
1 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
EEG with central focal spikes
CUI: C4023077
Disease: EEG with central focal spikes
2 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Ulnar deviation of hand
CUI: C0241521
Disease: Ulnar deviation of hand
2 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Abnormality of coordination
CUI: C4023353
Disease: Abnormality of coordination
3 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Enuresis
CUI: C0014394
Disease: Enuresis
3 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Malabsorption
CUI: C3714745
Disease: Malabsorption
3 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Poor fine motor coordination
CUI: C1867864
Disease: Poor fine motor coordination
3 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Frequent falls
CUI: C0850703
Disease: Frequent falls
4 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Delayed myelination
CUI: C1277241
Disease: Delayed myelination
6 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Lower limb hyperreflexia
CUI: C1836696
Disease: Lower limb hyperreflexia
6 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
7 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Electroretinogram abnormal
CUI: C0476397
Disease: Electroretinogram abnormal
10 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Thick eyebrow
CUI: C1853487
Disease: Thick eyebrow
13 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0