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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||
|
1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
18 | 51065532 | missense variant | C/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||||
|
18 | 51078417 | missense variant | G/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 18 | 51065563 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 18 | 51065563 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51067077 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51067077 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51048696 | frameshift variant | AAGGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51076778 | splice donor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2006 | 2012 | ||||||||
|
1.000 | 0.120 | 18 | 51058181 | frameshift variant | GGCCTCAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51078334 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
18 | 51065392 | intron variant | G/A | snv | 1.1E-02 | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
18 | 51065392 | intron variant | G/A | snv | 1.1E-02 | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51065539 | stop gained | G/T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 18 | 51067115 | stop gained | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 18 | 51067115 | stop gained | C/G;T | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 18 | 51078285 | missense variant | G/C | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51078351 | stop gained | A/T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 0 |