SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
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: rs3794087
rs3794087 		0.851 0.120 11 35308068 intron variant G/T snv 0.20
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.900 0.500 10 2012 2018
dbSNP: rs886037942
rs886037942 		1.000 11 35315089 missense variant C/G;T snv
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.800 1.000 2 2016 2017
dbSNP: rs886037943
rs886037943 		1.000 11 35315079 missense variant A/G snv
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.800 1.000 2 2016 2017
dbSNP: rs10768122
rs10768122 		1.000 0.040 11 35259305 3 prime UTR variant A/G snv 0.33
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012
dbSNP: rs781379291
rs781379291 		1.000 11 35292512 missense variant G/A;C snv
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 1.000 3 2012 2017
dbSNP: rs1043101
rs1043101 		1.000 0.040 11 35253282 3 prime UTR variant A/G;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2421897
rs2421897 		1.000 0.080 11 35416316 intron variant G/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4354668
rs4354668 		0.882 0.040 11 35419429 5 prime UTR variant T/G snv 0.54
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.040 0.750 4 2014 2019
dbSNP: rs3794087
rs3794087 		0.851 0.120 11 35308068 intron variant G/T snv 0.20
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 0.500 2 2016 2018
dbSNP: rs796998590
rs796998590 		0.925 0.080 11 35317428 missense variant G/A;C snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1997 2011
dbSNP: rs377633002
rs377633002 		1.000 0.080 11 35315097 missense variant G/C snv 2.2E-04 3.7E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs3794087
rs3794087 		0.851 0.120 11 35308068 intron variant G/T snv 0.20
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3794087
rs3794087 		0.851 0.120 11 35308068 intron variant G/T snv 0.20
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs3794087
rs3794087 		0.851 0.120 11 35308068 intron variant G/T snv 0.20
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs3794087
rs3794087 		0.851 0.120 11 35308068 intron variant G/T snv 0.20
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4354668
rs4354668 		0.882 0.040 11 35419429 5 prime UTR variant T/G snv 0.54
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4354668
rs4354668 		0.882 0.040 11 35419429 5 prime UTR variant T/G snv 0.54
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs752949
rs752949 		0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
Liver Cirrhosis, Alcoholic 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2004 2004
dbSNP: rs752949
rs752949 		0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs752949
rs752949 		0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs766059474
rs766059474 		1.000 0.080 11 35265643 missense variant C/T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs796998590
rs796998590 		0.925 0.080 11 35317428 missense variant G/A;C snv 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs886037942
rs886037942 		1.000 11 35315089 missense variant C/G;T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2017 2017