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: rs397514556
rs397514556 		1.000 12 13611847 missense variant G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs527236034
rs527236034 		1.000 12 13616545 missense variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs672601377
rs672601377 		1.000 12 13608769 missense variant T/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs672601378
rs672601378 		0.882 0.040 12 13615149 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 3 2014 2017
dbSNP: rs1806191
rs1806191 		0.925 0.080 12 13563704 missense variant G/A;T snv 0.40; 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1806191
rs1806191 		0.925 0.080 12 13563704 missense variant G/A;T snv 0.40; 4.0E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C 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 2014 2014
dbSNP: rs672601378
rs672601378 		0.882 0.040 12 13615149 missense variant C/T snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs672601378
rs672601378 		0.882 0.040 12 13615149 missense variant C/T 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 2014 2014
dbSNP: rs748128078
rs748128078 		0.925 0.040 12 13562968 missense variant G/A snv 1.6E-05 5.6E-05
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs748128078
rs748128078 		0.925 0.040 12 13562968 missense variant G/A snv 1.6E-05 5.6E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs749655702
rs749655702 		0.925 0.080 12 13563360 missense variant T/C snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs749655702
rs749655702 		0.925 0.080 12 13563360 missense variant T/C snv 8.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs756790727
rs756790727 		0.925 0.040 12 13562883 missense variant G/A snv 1.2E-05
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs756790727
rs756790727 		0.925 0.040 12 13562883 missense variant G/A snv 1.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs879254129
rs879254129 		0.925 0.040 12 13562977 missense variant A/G snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs879254129
rs879254129 		0.925 0.040 12 13562977 missense variant A/G snv 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1057518800
rs1057518800 		12 13567228 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518800
rs1057518800 		12 13567228 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs1057518988
rs1057518988 		0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518988
rs1057518988 		0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs1057518988
rs1057518988 		0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519553
rs1057519553 		1.000 12 13866166 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0