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 | 22 | 50525908 | stop gained | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | 22 | 50524305 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 50524071 | missense variant | C/T | snv | 8.3E-04 | 7.6E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 22 | 50525910 | frameshift variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 50525898 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 22 | 50524014 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 50524054 | missense variant | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.240 | 22 | 50524255 | stop gained | G/A | snv | 8.4E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.240 | 22 | 50524255 | stop gained | G/A | snv | 8.4E-05 | 3.5E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.200 | 22 | 50524144 | stop gained | G/A | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 22 | 50525808 | frameshift variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | 22 | 50523738 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.040 | 22 | 50523636 | missense variant | G/A;T | snv | 2.4E-03; 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.200 | 22 | 50523901 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 8 | 1999 | 2015 | ||||||
|
0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 8 | 1999 | 2015 |