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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital small ears
|
13 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Delayed bone age
|
14 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
EAR, PATELLA, SHORT STATURE SYNDROME
|
12 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Frontal bossing
|
22 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Intrauterine retardation
|
56 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Long eyelashes
|
17 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Micrognathism
|
53 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Microstomia
|
9 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Mild global developmental delay
|
13 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Patellar aplasia
|
3 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Pediatric failure to thrive
|
122 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Severe postnatal growth retardation
|
5 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Shawl scrotum
|
2 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Short palpebral fissure
|
16 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Simple syndactyly of toes, first web space
|
3 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Small anterior fontanelle
|
4 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Small hand
|
31 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Stenosis of external auditory canal
|
4 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Thick vermilion border
|
15 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
MEIER-GORLIN SYNDROME 6
|
3 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 0 |