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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 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
Growth delay
CUI: C0456070
Disease: Growth delay
40 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
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 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
Malabsorption
CUI: C3714745
Disease: Malabsorption
3 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 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
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 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
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 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
Strabismus
CUI: C0038379
Disease: Strabismus
89 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
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0