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: rs220599
rs220599 		1.000 0.040 12 13822364 intron variant G/A snv 0.39
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2268115
rs2268115 		1.000 0.040 12 13716791 intron variant G/A;T snv
CUI: C0438696
Disease: Suicidal
Suicidal 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs2268118
rs2268118 		12 13719110 intron variant G/A;T snv
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2268127
rs2268127 		12 13787914 intron variant T/C snv 0.26
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2284411
rs2284411 		1.000 0.040 12 13713238 intron variant C/T snv 0.34
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs2284411
rs2284411 		1.000 0.040 12 13713238 intron variant C/T snv 0.34
CUI: C0424101
Disease: Inattention
Inattention 		0.010 1.000 1 2017 2017
dbSNP: rs2284411
rs2284411 		1.000 0.040 12 13713238 intron variant C/T snv 0.34
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2284411
rs2284411 		1.000 0.040 12 13713238 intron variant C/T snv 0.34
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs28621435
rs28621435 		12 13708056 intron variant G/A snv 7.4E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6488619
rs6488619 		12 13774962 intron variant C/A;T snv
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve 		0.800 1.000 1 2012 2012
dbSNP: rs7298664
rs7298664 		1.000 0.040 12 13970151 intron variant C/T snv 0.80
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs7303541
rs7303541 		1.000 0.040 12 13452306 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7310354
rs7310354 		1.000 0.040 12 13456506 intron variant T/C snv 0.90
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7952915
rs7952915 		1.000 0.040 12 13879926 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs984895
rs984895 		1.000 0.040 12 13454884 intron variant C/G snv 0.65
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs879253931
rs879253931 		0.925 12 13567084 stop gained G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 1.000 1 2016 2016
dbSNP: rs879253931
rs879253931 		0.925 12 13567084 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 1 2016 2016
dbSNP: rs1057518700
rs1057518700 		1.000 12 13608792 stop gained C/G;T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1135401799
rs1135401799 		1.000 12 13608647 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs398122825
rs398122825 		1.000 12 13611828 stop gained C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
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