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 | 11113764 | splice donor variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
1.000 | 0.080 | 19 | 11113764 | splice donor variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11113764 | splice donor variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113753 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 11113750 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||
|
1.000 | 0.080 | 19 | 11113747 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||
|
1.000 | 0.080 | 19 | 11113743 | inframe deletion | GTGGTGGAT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 19 | 11113734 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 19 | 11113734 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113734 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 11113728 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 11113728 | missense variant | A/G | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 11113728 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 11113728 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113725 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113725 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113725 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113725 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11113723 | frameshift variant | TCCAAGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 19 | 11113723 | frameshift variant | TCCAAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11113723 | frameshift variant | TCCAAGC/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113723 | frameshift variant | TCCAAGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins |
|
0.700 | 0 |