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: rs1555111511
rs1555111511 		1.000 12 13611773 inframe deletion AAGACA/- delins
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1019385
rs1019385 		12 13981909 splice region variant C/A snv 0.37
CUI: C0013170
Disease: Drug habituation
Drug habituation 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1057519612
rs1057519612 		1.000 12 13567265 splice acceptor variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs398122824
rs398122824 		1.000 12 13570019 splice acceptor variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1060499526
rs1060499526 		1.000 12 13753523 frameshift variant GT/- delins
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1565455778
rs1565455778 		0.925 12 13567063 frameshift variant A/- del
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1565455778
rs1565455778 		0.925 12 13567063 frameshift variant A/- del
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs398122823
rs398122823 		1.000 12 13866109 frameshift variant -/G delins
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs890
rs890 		1.000 0.040 12 13562374 3 prime UTR variant A/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2015 2016
dbSNP: rs1805476
rs1805476 		0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1805476
rs1805476 		0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33
CUI: C0233697
Disease: Obsessions
Obsessions 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805476
rs1805476 		0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805476
rs1805476 		0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1805477
rs1805477 		0.882 0.080 12 13561795 3 prime UTR variant T/A;C;G snv
CUI: C0233697
Disease: Obsessions
Obsessions 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805477
rs1805477 		0.882 0.080 12 13561795 3 prime UTR variant T/A;C;G snv
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1805477
rs1805477 		0.882 0.080 12 13561795 3 prime UTR variant T/A;C;G snv
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805501
rs1805501 		0.925 0.040 12 13561125 3 prime UTR variant A/G snv 8.5E-03
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805501
rs1805501 		0.925 0.040 12 13561125 3 prime UTR variant A/G snv 8.5E-03
CUI: C0233697
Disease: Obsessions
Obsessions 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C2063866
Disease: Depressive Disorder, Treatment-Resistant
Depressive Disorder, Treatment-Resistant 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1805502
rs1805502 		0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25
CUI: C0233697
Disease: Obsessions
Obsessions 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012