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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
0.700 | 0 |