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: rs1057519611
rs1057519611 		1.000 12 13865797 splice donor variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2002 2010
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2002 2010
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2010
dbSNP: rs1805247
rs1805247 		0.925 0.080 12 13563041 synonymous variant A/G snv 0.13 0.17
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1805247
rs1805247 		0.925 0.080 12 13563041 synonymous variant A/G snv 0.13 0.17
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2000 2000
dbSNP: rs1806201
rs1806201 		0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24
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 2007 2007
dbSNP: rs34315573
rs34315573 		1.000 0.080 12 13866194 synonymous variant C/T snv 4.9E-02 3.4E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs7301328
rs7301328 		0.882 0.120 12 13865843 synonymous variant G/C;T snv 0.41; 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7301328
rs7301328 		0.882 0.120 12 13865843 synonymous variant G/C;T snv 0.41; 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs7301328
rs7301328 		0.882 0.120 12 13865843 synonymous variant G/C;T snv 0.41; 4.0E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1555103971
rs1555103971 		1.000 12 13571888 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2007 2017
dbSNP: rs797044849
rs797044849 		0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 2007 2017
dbSNP: rs1555103971
rs1555103971 		1.000 12 13571888 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
dbSNP: rs387906636
rs387906636 		1.000 12 13571931 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: rs397514555
rs397514555 		1.000 12 13615626 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 7 2010 2017
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