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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 32 | 1989 | 2017 | |||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 12 | 1990 | 2016 | |||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 8 | 1990 | 2017 | |||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 2000 | 2011 | ||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2000 | 2002 | ||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 38 | 1989 | 2017 | ||||||
|
0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.840 | 1.000 | 35 | 1989 | 2017 | |||||||
|
0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 25 | 1997 | 2016 | ||||||
|
0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.760 | 1.000 | 22 | 1989 | 2016 | |||||||
|
0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 14 | 1997 | 2017 | ||||||
|
0.827 | 0.120 | 19 | 11113590 | missense variant | G/A;T | snv | 5.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 8 | 2008 | 2016 | ||||||
|
0.827 | 0.160 | 19 | 11113348 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 2001 | 2015 | |||||||
|
0.827 | 0.120 | 19 | 11113314 | missense variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2010 | 2012 |