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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 6 | 1997 | 2009 | |||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.030 | 1.000 | 3 | 1999 | 2010 | |||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2002 | 2010 | |||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2002 | 2008 | |||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 69065013 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 7 | 1997 | 2009 | |||||||
|
0.925 | 0.120 | 9 | 69053193 | stop gained | T/C;G | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 6 | 1997 | 2009 | |||||||
|
1.000 | 0.120 | 9 | 69072673 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 1997 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 69072722 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 1997 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 69064991 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.720 | 1.000 | 2 | 2004 | 2014 | ||||||||
|
0.925 | 0.120 | 9 | 69053193 | stop gained | T/C;G | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 9 | 69065013 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.120 | 9 | 69053191 | frameshift variant | TT/-;T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |