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 | 2 | 27470618 | intron variant | T/C | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27470618 | intron variant | T/C | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27454824 | intron variant | G/A | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27454824 | intron variant | G/A | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27462521 | intron variant | G/A | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27462521 | intron variant | G/A | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27475476 | intron variant | C/G | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27475476 | intron variant | C/G | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27480628 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 2 | 27480628 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 27452065 | intron variant | ACA/-;ACAACA | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 2 | 27483773 | intron variant | T/C | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27483773 | intron variant | T/C | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 2 | 27447567 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 2 | 27477310 | missense variant | A/T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.120 | 2 | 27462521 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 27462521 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 2 | 27447567 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 27457638 | splice donor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 27470948 | frameshift variant | TC/-;TCTC | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 27476657 | inframe deletion | TCAATA/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 27461794 | frameshift variant | G/- | delins | 2.8E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 27446314 | missense variant | G/T | snv |
|
0.800 | 0 | |||||||||||||
|
1.000 | 2 | 27445929 | missense variant | A/C | snv |
|
0.800 | 0 | |||||||||||||
|
1.000 | 2 | 27481061 | missense variant | A/G | snv |
|
0.800 | 0 |