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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 89934974 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 10 | 2010 | 2016 | ||||||||||
|
16 | 89934974 | missense variant | G/C | snv |
|
0.700 | 1.000 | 10 | 2010 | 2016 | |||||||||||
|
1.000 | 16 | 89920123 | missense variant | T/C | snv | 5.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
16 | 89932386 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 89928508 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 16 | 89935418 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 16 | 89935064 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 16 | 89935356 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 16 | 89935433 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 89935313 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 89934984 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 0 | ||||||||||||
|
1.000 | 16 | 89935613 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 16 | 89932649 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 89932649 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 16 | 89935140 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 16 | 89935140 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 89935140 | missense variant | C/T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.160 | 16 | 89920152 | stop gained | C/G;T | snv | 8.0E-06; 8.0E-06; 8.8E-05 | 1.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.160 | 16 | 89935235 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.160 | 16 | 89935355 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 16 | 89935700 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 16 | 89935700 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 16 | 89935711 | missense variant | CG/GA | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 16 | 89935711 | missense variant | CG/GA | mnv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 16 | 89934743 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |