GAD1, glutamate decarboxylase 1, 2571

N. diseases: 245; N. variants: 14
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: rs121918345
rs121918345 		1.000 0.040 2 170818626 missense variant C/G;T snv 2.4E-05
CUI: C2751938
Disease: Cerebral Palsy, Spastic Quadriplegic, 1
Cerebral Palsy, Spastic Quadriplegic, 1 		Nervous System Diseases 0.800 1.000 2 2004 2004
dbSNP: rs3749034
rs3749034 		0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs774953382
rs774953382 		1.000 0.040 2 170859769 missense variant C/G;T snv 2.0E-05 3.5E-05
CUI: C2751938
Disease: Cerebral Palsy, Spastic Quadriplegic, 1
Cerebral Palsy, Spastic Quadriplegic, 1 		Nervous System Diseases 0.700 0
dbSNP: rs3749034
rs3749034 		0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2011 2016
dbSNP: rs1167204443
rs1167204443 		0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 1999 2003
dbSNP: rs11542313
rs11542313 		1.000 0.040 2 170822115 synonymous variant T/C snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1167204443
rs1167204443 		0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1167204443
rs1167204443 		0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1190356035
rs1190356035 		0.882 0.360 2 170853979 missense variant G/A snv 7.0E-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 2000 2000
dbSNP: rs1190356035
rs1190356035 		0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1190356035
rs1190356035 		0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1190356035
rs1190356035 		0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1978340
rs1978340 		1.000 0.080 2 170813611 non coding transcript exon variant G/A snv 0.25
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2241165
rs2241165 		1.000 0.040 2 170821869 non coding transcript exon variant C/T snv 0.63
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs3749034
rs3749034 		0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3749034
rs3749034 		0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3749034
rs3749034 		0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3749034
rs3749034 		0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs3791878
rs3791878 		0.925 0.120 2 170815681 non coding transcript exon variant G/T snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs3791878
rs3791878 		0.925 0.120 2 170815681 non coding transcript exon variant G/T snv 0.23
CUI: C2921125
Disease: Post traumatic seizures
Post traumatic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3828275
rs3828275 		1.000 0.080 2 170826230 intron variant C/T snv 0.36
CUI: C2921125
Disease: Post traumatic seizures
Post traumatic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs701492
rs701492 		1.000 0.040 2 170845970 intron variant C/T snv 0.30 0.28
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs701492
rs701492 		1.000 0.040 2 170845970 intron variant C/T snv 0.30 0.28
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs769391
rs769391 		1.000 0.080 2 170852920 non coding transcript exon variant A/G snv 0.29
CUI: C2921125
Disease: Post traumatic seizures
Post traumatic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs769395
rs769395 		1.000 0.080 2 170860293 3 prime UTR variant G/A snv 0.76
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012