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 | 0 | |||||||||||
|
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 | 51058181 | frameshift variant | GGCCTCAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
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 | |||||||||||
|
1.000 | 0.120 | 18 | 51054911 | stop gained | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
18 | 51048711 | frameshift variant | AT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 18 | 51048824 | missense variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51054787 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
18 | 51058208 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51058449 | splice donor variant | -/CATTACTG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51058455 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51059865 | splice acceptor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51059866 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51065489 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 18 | 51065596 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51065604 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51067045 | frameshift variant | TG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
18 | 51067079 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |