rs1085307993, GABRB2

N. diseases: 53
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Growth delay
CUI: C0456070
Disease: Growth delay
0.700 GeneticVariation CLINVAR
Gluten intolerance
CUI: C4317045
Disease: Gluten intolerance
0.700 GeneticVariation CLINVAR
Abnormality of coordination
CUI: C4023353
Disease: Abnormality of coordination
0.700 GeneticVariation CLINVAR
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
0.700 GeneticVariation CLINVAR
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
0.700 GeneticVariation CLINVAR
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
0.700 GeneticVariation CLINVAR
Poor fine motor coordination
CUI: C1867864
Disease: Poor fine motor coordination
0.700 GeneticVariation CLINVAR
Low Vision
CUI: C0042798
Disease: Low Vision
0.700 GeneticVariation CLINVAR
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
0.700 GeneticVariation CLINVAR
Electroretinogram abnormal
CUI: C0476397
Disease: Electroretinogram abnormal
0.700 GeneticVariation CLINVAR
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 GeneticVariation CLINVAR
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
0.700 GeneticVariation CLINVAR
Ulnar deviation of hand
CUI: C0241521
Disease: Ulnar deviation of hand
0.700 GeneticVariation CLINVAR
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
0.700 GeneticVariation CLINVAR
Frequent falls
CUI: C0850703
Disease: Frequent falls
0.700 GeneticVariation CLINVAR
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
0.700 GeneticVariation CLINVAR
Strabismus
CUI: C0038379
Disease: Strabismus
0.700 GeneticVariation CLINVAR
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
0.700 GeneticVariation CLINVAR
Synophrys
CUI: C0431447
Disease: Synophrys
0.700 GeneticVariation CLINVAR
Thick eyebrow
CUI: C1853487
Disease: Thick eyebrow
0.700 GeneticVariation CLINVAR