Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0014877
Disease: Esotropia
Esotropia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0014394
Disease: Enuresis
Enuresis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C3714745
Disease: Malabsorption
Malabsorption 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0850703
Disease: Frequent falls
Frequent falls 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0431447
Disease: Synophrys
Synophrys 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		T 0.700 GeneticVariation CLINVAR