GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786203999
rs786203999 		1.000 16 46906858 missense variant C/G snv
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.800 1.000 1 2015 2015
dbSNP: rs1437184398
rs1437184398 		0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2014 2018
dbSNP: rs1437184398
rs1437184398 		0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2014 2018
dbSNP: rs115352435
rs115352435 		1.000 16 46922414 stop gained C/G;T snv 2.0E-05; 3.7E-05
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 		0.700 0
dbSNP: rs1372862248
rs1372862248 		1.000 0.120 16 46926991 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs1372862248
rs1372862248 		1.000 0.120 16 46926991 missense variant G/A snv
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1437184398
rs1437184398 		0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1437184398
rs1437184398 		0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs786203999
rs786203999 		1.000 16 46906858 missense variant C/G snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2015 2015