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.
Abnormality of coordination
CUI: C4023353
Disease: Abnormality of coordination
3 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 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
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 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
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 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
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 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
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
Electroretinogram abnormal
CUI: C0476397
Disease: Electroretinogram abnormal
10 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 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
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
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 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
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 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