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: rs75347843
rs75347843 		22 50673933 intron variant G/A;C;T snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 2 2016 2017
dbSNP: rs1336089966
rs1336089966 		1.000 0.040 22 50674675 missense variant C/T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1569097392
rs1569097392 		1.000 22 50676625 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569097392
rs1569097392 		1.000 22 50676625 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs397514705
rs397514705 		1.000 0.080 22 50678666 missense variant C/G snv
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 3 2013 2013
dbSNP: rs9616914
rs9616914 		1.000 0.040 22 50678709 intron variant G/A snv 0.35 0.36
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs9616914
rs9616914 		1.000 0.040 22 50678709 intron variant G/A snv 0.35 0.36
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9616914
rs9616914 		1.000 0.040 22 50678709 intron variant G/A snv 0.35 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs9616915
rs9616915 		1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs9616915
rs9616915 		1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs7286601
rs7286601 		22 50682988 intron variant T/G snv 0.37
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs376862893
rs376862893 		1.000 0.040 22 50683352 missense variant C/T snv 1.1E-04 3.5E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1057519406
rs1057519406 		1.000 0.080 22 50684651 missense variant G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519406
rs1057519406 		1.000 0.080 22 50684651 missense variant G/T snv
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs76224556
rs76224556 		1.000 0.040 22 50695096 intron variant C/A;T snv 2.0E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs387906933
rs387906933 		1.000 22 50698797 missense variant C/A;G;T snv 4.1E-06
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		0.800 1.000 1 2010 2010
dbSNP: rs9616946
rs9616946 		22 50710567 intron variant G/A snv 0.19
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs5770820
rs5770820 		22 50712045 intron variant G/A snv 0.20
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2019 2019
dbSNP: rs1396379503
rs1396379503 		1.000 0.080 22 50715048 splice donor variant G/A snv 7.0E-06
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs6010065
rs6010065 		1.000 0.040 22 50719589 intron variant G/C snv 0.52
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1555910048
rs1555910048 		1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs767058690
rs767058690 		0.925 0.040 22 50720865 missense variant G/C;T snv 1.1E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs767058690
rs767058690 		0.925 0.040 22 50720865 missense variant G/C;T snv 1.1E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs387906932
rs387906932 		1.000 22 50721182 stop gained C/T snv
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		0.700 0
dbSNP: rs1555910143
rs1555910143 		0.925 0.120 22 50721257 frameshift variant CT/- del
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019