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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 8 | 18075559 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 1996 | 2016 | ||||||||
|
1.000 | 0.120 | 8 | 18059424 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 1996 | 2016 | ||||||||
|
1.000 | 0.120 | 8 | 18061686 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 1996 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 18056461 | 3 prime UTR variant | G/A | snv | 0.77 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2017 | 2018 | |||||||
|
1.000 | 0.120 | 8 | 18062278 | splice donor variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 8 | 18073490 | intron variant | A/G | snv | 0.43 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 8 | 18074195 | intron variant | C/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 8 | 18059568 | splice region variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 8 | 18064905 | non coding transcript exon variant | A/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.160 | 8 | 18059639 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 18062422 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 8 | 18064501 | missense variant | T/A | snv | 4.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 1996 | 2016 | |||||||
|
0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.120 | 8 | 18061724 | missense variant | G/A;C;T | snv | 5.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 11 | 1996 | 2016 | |||||||
|
1.000 | 0.120 | 8 | 18059385 | missense variant | G/A;C | snv | 5.6E-05; 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 11 | 1996 | 2016 | ||||||
|
8 | 18057568 | missense variant | A/C;G | snv | 8.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.160 | 8 | 18075541 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 3 | 2012 | 2016 | ||||||
|
0.851 | 0.160 | 8 | 18075541 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 8 | 18075541 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 8 | 18075541 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.120 | 8 | 18062383 | missense variant | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 1996 | 2016 | |||||||
|
1.000 | 0.160 | 8 | 18075542 | missense variant | T/C | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |