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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 115604916 | stop gained | G/T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 115414593 | stop gained | G/C | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 8 | 115418358 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 8 | 115587497 | frameshift variant | GATGTCCTGT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 8 | 115587497 | frameshift variant | GATGTCCTGT/- | delins |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 8 | 115604319 | frameshift variant | GC/- | del |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 8 | 115604319 | frameshift variant | GC/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 115604926 | missense variant | C/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins |
|
0.700 | 0 |