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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 35281568 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 35281568 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 35281568 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 35284607 | non coding transcript exon variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
19 | 35284607 | non coding transcript exon variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
19 | 35285578 | downstream gene variant | C/T | snv | 5.2E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 35285578 | downstream gene variant | C/T | snv | 5.2E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 19 | 35285010 | stop gained | C/G;T | snv | 8.0E-06; 2.0E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 35285020 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2003 | 2004 | ||||||||
|
0.925 | 0.080 | 19 | 35284953 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | 19 | 35284995 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 19 | 35284995 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 19 | 35284538 | non coding transcript exon variant | A/G;T | snv | 0.43 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 19 | 35284538 | non coding transcript exon variant | A/G;T | snv | 0.43 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 19 | 35284791 | splice region variant | G/A | snv | 1.6E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 19 | 35284953 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 19 | 35284995 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 35285003 | stop gained | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 19 | 35284962 | stop gained | C/G;T | snv | 9.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2003 | 2004 | |||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
Infections; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |