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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 27638840 | intron variant | G/A | snv | 0.46 | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 27631657 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 27650198 | stop lost | T/C | snv | 4.4E-05; 4.0E-06 | 4.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 27650198 | stop lost | T/C | snv | 4.4E-05; 4.0E-06 | 4.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 27650459 | 3 prime UTR variant | C/G | snv | 0.22 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 2 | 27630378 | intron variant | C/G | snv | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27630378 | intron variant | C/G | snv | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
0.925 | 0.120 | 2 | 27630378 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 2 | 27630378 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 2 | 27630378 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |