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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 14 | 53954334 | intron variant | G/T | snv | 0.34 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 14 | 53954334 | intron variant | G/T | snv | 0.34 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 14 | 53954334 | intron variant | G/T | snv | 0.34 |
|
Musculoskeletal Diseases; Wounds and Injuries | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 14 | 53950403 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.240 | 14 | 53951945 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 |