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: rs137852350
rs137852350 		1.000 0.080 X 123482856 missense variant G/A snv
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs137852351
rs137852351 		0.925 0.080 X 123427954 missense variant C/A snv
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs137852352
rs137852352 		1.000 0.080 X 123464905 missense variant T/C snv
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs1057521721
rs1057521721 		0.851 0.200 X 123428020 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1057521721
rs1057521721 		0.851 0.200 X 123428020 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1057521721
rs1057521721 		0.851 0.200 X 123428020 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1057521721
rs1057521721 		0.851 0.200 X 123428020 missense variant G/A snv
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1057521721
rs1057521721 		0.851 0.200 X 123428020 missense variant G/A snv
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1135401788
rs1135401788 		1.000 0.080 X 123428027 missense variant T/C snv
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs368568228
rs368568228 		0.925 0.080 X 123404763 missense variant G/A snv 2.7E-05 2.8E-05
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777361
rs587777361 		1.000 0.080 X 123427951 missense variant G/C snv
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1034428
rs1034428 		1.000 0.040 X 123303197 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs137852351
rs137852351 		0.925 0.080 X 123427954 missense variant C/A snv
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2227098
rs2227098 		1.000 0.040 X 123361111 intron variant C/T snv 0.43
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs368568228
rs368568228 		0.925 0.080 X 123404763 missense variant G/A snv 2.7E-05 2.8E-05
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3761554
rs3761554 		1.000 0.040 X 123183391 upstream gene variant T/C snv 0.21
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs3761554
rs3761554 		1.000 0.040 X 123183391 upstream gene variant T/C snv 0.21
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs3761555
rs3761555 		1.000 0.040 X 123182584 upstream gene variant T/C snv 0.38
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs3761555
rs3761555 		1.000 0.040 X 123182584 upstream gene variant T/C snv 0.38
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4825476
rs4825476 		0.925 0.040 X 123307628 intron variant G/A;C snv
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs4825476
rs4825476 		0.925 0.040 X 123307628 intron variant G/A;C snv
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs502434
rs502434 		1.000 0.040 X 123403426 synonymous variant T/C snv 0.59
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs502434
rs502434 		1.000 0.040 X 123403426 synonymous variant T/C snv 0.59
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs989638
rs989638 		0.925 0.040 X 123239256 intron variant C/G;T snv
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs989638
rs989638 		0.925 0.040 X 123239256 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008