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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
17 | 7670691 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 7670659 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 7676120 | frameshift variant | GC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 7674932 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 7675223 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
17 | 7676379 | splice donor variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.925 | 0.240 | 17 | 7673699 | splice donor variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.240 | 17 | 7673699 | splice donor variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
17 | 7676537 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 7676405 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 7675142 | missense variant | A/G;T | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
17 | 7673776 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
17 | 7676041 | frameshift variant | GGAAA/TTTT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 7674939 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |