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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 19 | 11113505 | non coding transcript exon variant | C/A;T | snv | 4.0E-06; 0.40 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 19 | 11113505 | non coding transcript exon variant | C/A;T | snv | 4.0E-06; 0.40 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.060 | 1.000 | 6 | 1998 | 2008 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2001 | 2003 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 19 | 11113584 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11113296 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 |