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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 18 | 51041256 | intron variant | C/G | snv | 0.32 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 18 | 51067106 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 18 | 51076736 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 18 | 51078380 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.120 | 18 | 51049296 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 18 | 51049296 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 18 | 51054859 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 18 | 51067121 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |