Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554093885
rs1554093885
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
C 0.800 CausalMutation CLINVAR
dbSNP: rs1554093894
rs1554093894
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs1554094145
rs1554094145
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs1554094149
rs1554094149
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs606231468
rs606231468
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
0.800 GeneticVariation UNIPROT
dbSNP: rs606231468
rs606231468
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C1843367
Disease:
Poor school performance
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0456070
Disease:
Growth delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4317045
Disease:
Gluten intolerance
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4023353
Disease:
Abnormality of coordination
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C1842366
Disease:
Low anterior hairline
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0036572
Disease:
Seizures
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0401149
Disease:
Chronic constipation
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0426886
Disease:
Tapering fingers (finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0575081
Disease:
Gait abnormality
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C1867864
Disease:
Poor fine motor coordination
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0042798
Disease:
Low Vision
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0427190
Disease:
Ataxia, Truncal
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0476397
Disease:
Electroretinogram abnormal
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C1837397
Disease:
Severe global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0028738
Disease:
Nystagmus
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0013421
Disease:
Dystonia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0231686
Disease:
Gait, Unsteady
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C0241521
Disease:
Ulnar deviation of hand
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307993
rs1085307993
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C4693362
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
T 0.700 GeneticVariation CLINVAR