Source: CURATED ×
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0026884
Disease: Mutism
Mutism
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 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: 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: 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: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
0.700 0