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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 79400235 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
18 | 79400235 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
18 | 79472709 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 79398225 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 79398225 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 79398225 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 79465154 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 18 | 79411390 | missense variant | C/A;T | snv | 2.1E-04; 4.8E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 18 | 79411390 | missense variant | C/A;T | snv | 2.1E-04; 4.8E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 18 | 79411390 | missense variant | C/A;T | snv | 2.1E-04; 4.8E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 18 | 79411390 | missense variant | C/A;T | snv | 2.1E-04; 4.8E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 79486424 | missense variant | C/G;T | snv | 8.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 18 | 79460616 | non coding transcript exon variant | C/T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
18 | 79454468 | intron variant | C/T | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 18 | 79411375 | missense variant | C/T | snv | 3.3E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.120 | 18 | 79411375 | missense variant | C/T | snv | 3.3E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.120 | 18 | 79411375 | missense variant | C/T | snv | 3.3E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.827 | 0.120 | 18 | 79460616 | non coding transcript exon variant | C/T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 18 | 79460616 | non coding transcript exon variant | C/T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 18 | 79460616 | non coding transcript exon variant | C/T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |