DISC1, DISC1 scaffold protein, 27185

N. diseases: 136; N. variants: 44
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: rs4332347
rs4332347 		0.925 0.040 1 231790321 intron variant G/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4332347
rs4332347 		0.925 0.040 1 231790321 intron variant G/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs821616
rs821616 		0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.100 0.818 22 2005 2018
dbSNP: rs821597
rs821597 		1.000 0.040 1 231966518 intron variant G/A snv 0.49
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.080 0.875 8 2005 2018
dbSNP: rs6675281
rs6675281 		0.827 0.080 1 231818355 missense variant C/T snv 0.11 0.14
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.060 1.000 6 2008 2019
dbSNP: rs3738401
rs3738401 		0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.050 0.600 5 2006 2018
dbSNP: rs1538979
rs1538979 		0.882 0.160 1 231761122 intron variant C/T snv 0.19
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2009 2011
dbSNP: rs3737597
rs3737597 		0.925 0.120 1 232037092 3 prime UTR variant G/A snv 3.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 0.500 2 2015 2018
dbSNP: rs3738401
rs3738401 		0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.020 1.000 2 2014 2014
dbSNP: rs764901021
rs764901021 		1.000 0.040 1 231770903 missense variant A/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2004 2007
dbSNP: rs821616
rs821616 		0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2011 2012
dbSNP: rs821616
rs821616 		0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.020 1.000 2 2006 2014
dbSNP: rs821633
rs821633 		0.882 0.160 1 232013187 intron variant T/C snv 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2009 2011
dbSNP: rs1000731
rs1000731 		1.000 0.040 1 231827745 intron variant C/T snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs11122324
rs11122324 		1.000 0.040 1 231723435 3 prime UTR variant G/A;C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs11122330
rs11122330 		1.000 0.040 1 231762845 intron variant A/G snv 0.14
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs11585959
rs11585959 		1.000 0.040 1 231697972 intron variant T/C snv 0.27
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs12137417
rs12137417 		0.925 0.080 1 231950407 intron variant G/A snv 0.17
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs12137417
rs12137417 		0.925 0.080 1 231950407 intron variant G/A snv 0.17
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs12137417
rs12137417 		0.925 0.080 1 231950407 intron variant G/A snv 0.17
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs1238276682
rs1238276682 		1.000 0.040 1 231818424 missense variant G/A;C snv 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1322784
rs1322784 		1.000 0.040 1 231793189 intron variant G/A snv 0.72
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1417808440
rs1417808440 		1.000 0.040 1 231694044 missense variant C/T snv 1.4E-05
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1538979
rs1538979 		0.882 0.160 1 231761122 intron variant C/T snv 0.19
CUI: C3178803
Disease: Social Anhedonia
Social Anhedonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs1538979
rs1538979 		0.882 0.160 1 231761122 intron variant C/T snv 0.19
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2013 2013