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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 31520321 | missense variant | G/A | snv | 1.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
10 | 31520321 | missense variant | G/A | snv | 1.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.080 | 10 | 31521255 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
0.882 | 0.080 | 10 | 31521255 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.080 | 10 | 31521255 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.080 | 10 | 31521854 | missense variant | A/C;G | snv | 7.4E-03; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 10 | 31520308 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 31520308 | stop gained | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 31520308 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 31521854 | missense variant | A/C;G | snv | 7.4E-03; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 0 |