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 | 0.080 | 19 | 11113421 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113654 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113746 | frameshift variant | TG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 11111630 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 11111630 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 11111630 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11111635 | frameshift variant | TG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11111635 | frameshift variant | TG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 11113295 | frameshift variant | TT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 11113295 | frameshift variant | TT/- | del |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 11113295 | frameshift variant | TT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113454 | splice region variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11113454 | splice region variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11111628 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11111628 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11111628 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113360 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 19 | 11111534 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11111534 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |