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 | 1 | 40285988 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2003 | 2010 | ||||||||
|
0.925 | 0.160 | 1 | 40272009 | missense variant | C/G;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2003 | 2010 | |||||||
|
0.925 | 0.160 | 1 | 40281367 | missense variant | A/G | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 2003 | 2010 | ||||||
|
0.925 | 0.160 | 1 | 40258392 | stop gained | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |