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 | 0.120 | 18 | 51054931 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 18 | 51058143 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 1998 | 2010 | ||||||||
|
0.925 | 0.200 | 18 | 51058143 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 18 | 51058143 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 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 | 51058186 | frameshift variant | -/GCCC | delins |
|
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 | 51058245 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 18 | 51058364 | missense variant | G/A | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 18 | 51058379 | frameshift variant | AC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51058421 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 18 | 51058424 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 18 | 51058435 | frameshift variant | CCCCATCCCG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 51058435 | frameshift variant | CCCCATCCCG/- | 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 | |||||||||||||
|
1.000 | 0.120 | 18 | 51059867 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51059884 | frameshift variant | -/GCAT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
18 | 51059892 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 18 | 51059897 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51059916 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2005 | 2012 | ||||||||
|
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 |