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: 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: 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: rs762292772
rs762292772 		0.882 0.160 22 50721505 frameshift variant G/-;GG delins
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 2 2015 2019
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: 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
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: 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: rs762292772
rs762292772 		0.882 0.160 22 50721505 frameshift variant G/-;GG delins
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs762292772
rs762292772 		0.882 0.160 22 50721505 frameshift variant G/-;GG delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2015 2015
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: rs1057519395
rs1057519395 		1.000 0.080 22 50721861 frameshift variant TG/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519395
rs1057519395 		1.000 0.080 22 50721861 frameshift variant TG/- delins
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: 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: 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: rs1555910143
rs1555910143 		0.925 0.120 22 50721257 frameshift variant CT/- del
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: rs1555910162
rs1555910162 		0.925 0.080 22 50721469 frameshift variant -/C delins
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1555910162
rs1555910162 		0.925 0.080 22 50721469 frameshift variant -/C delins
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		0.700 0
dbSNP: rs1555910162
rs1555910162 		0.925 0.080 22 50721469 frameshift variant -/C delins
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.700 0
dbSNP: rs1555910162
rs1555910162 		0.925 0.080 22 50721469 frameshift variant -/C delins
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: rs1555910162
rs1555910162 		0.925 0.080 22 50721469 frameshift variant -/C delins
CUI: C0026884
Disease: Mutism
Mutism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555910212
rs1555910212 		1.000 0.080 22 50721716 frameshift variant G/- del
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: 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