SLC18A2, solute carrier family 18 member A2, 6571

N. diseases: 150; N. variants: 18
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: rs1293033867
rs1293033867 		10 117255657 missense variant G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2013 2016
dbSNP: rs1431337923
rs1431337923 		10 117255595 splice region variant AG/- delins 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2013 2016
dbSNP: rs1392638187
rs1392638187 		1.000 10 117267710 missense variant C/T snv 4.0E-06
CUI: C4747991
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 2
PARKINSONISM-DYSTONIA, INFANTILE, 2 		0.700 1.000 1 2013 2013
dbSNP: rs363271
rs363271 		1.000 0.080 10 117267900 non coding transcript exon variant G/T snv 0.80
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs762879329
rs762879329 		10 117255281 frameshift variant C/-;CC delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs363276
rs363276 		1.000 0.040 10 117274298 intron variant T/C;G snv
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.020 1.000 2 2014 2018
dbSNP: rs363387
rs363387 		1.000 0.080 10 117244053 synonymous variant T/A;C;G snv 4.0E-06; 7.9E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2005 2013
dbSNP: rs10082463
rs10082463 		1.000 0.040 10 117261896 intron variant A/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2015586
rs2015586 		0.925 0.120 10 117262226 intron variant C/T snv 0.58
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2015586
rs2015586 		0.925 0.120 10 117262226 intron variant C/T snv 0.58
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs363224
rs363224 		0.925 0.120 10 117263062 intron variant C/A snv 0.48
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs363224
rs363224 		0.925 0.120 10 117263062 intron variant C/A snv 0.48
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2013 2013
dbSNP: rs363236
rs363236 		1.000 0.040 10 117278860 3 prime UTR variant C/A;T snv 0.77
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs363238
rs363238 		1.000 0.120 10 117279248 3 prime UTR variant C/A snv 0.14
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs363282
rs363282 		1.000 0.120 10 117278157 3 prime UTR variant G/A snv 0.77
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs363332
rs363332 		1.000 0.080 10 117243156 intron variant G/A snv 0.18
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs363334
rs363334 		1.000 0.080 10 117245484 intron variant C/G snv 0.25
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs363338
rs363338 		1.000 0.080 10 117249878 intron variant C/T snv 0.58
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs363399
rs363399 		1.000 0.040 10 117249360 intron variant T/C snv 0.19
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs767337086
rs767337086 		1.000 0.040 10 117255286 missense variant C/A;G;T snv 2.4E-05; 4.0E-06; 8.0E-06
CUI: C4303546
Disease: Brain dopamine-serotonin vesicular transport disease
Brain dopamine-serotonin vesicular transport disease 		Nervous System Diseases 0.010 1.000 1 2016 2016