Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11 pairs of ribs
|
3 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Abnormality of the ribs
|
5 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Aplasia of the semicircular canal
|
1 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Atrial Septal Defects
|
96 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Bifid uvula
|
7 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Congenital hypoplasia of kidney
|
8 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Defect of vertebral segmentation
|
6 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Global developmental delay
|
553 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Hypoplastic cervical vertebrae
|
1 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Hypoplastic sacrum
|
2 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Incomplete partition of the cochlea type II
|
1 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Laryngeal web
|
2 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Laryngotracheomalacia
|
6 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Poor school performance
|
411 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Recurrent otitis media
|
11 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Sensorineural hearing loss, bilateral
|
30 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Short stature
|
292 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Submucous cleft of hard palate
|
3 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Talipes
|
2 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
|
2 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
Vesico-Ureteral Reflux
|
23 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 |