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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormal cochlea morphology
|
1 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Aplasia/Hypoplasia of the middle phalanges of the hand
|
1 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Apraxia of Phonation
|
9 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Apraxias
|
9 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Bilateral talipes equinovarus
|
6 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Birth length less than 3rd percentile
|
13 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Blue sclera
|
13 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
CATARACT 5, MULTIPLE TYPES
|
9 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Cervical spinal canal stenosis
|
2 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Congenital bilateral ptosis
|
1 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Congenital clubfoot
|
44 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
|
6 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Dilatated internal auditory canal
|
2 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Dilated vestibule of the inner ear
|
1 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Enlarged semicircular canal
|
1 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Growth delay
|
40 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Induced vaginal delivery
|
10 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Intrauterine retardation
|
56 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Isolated somatotropin deficiency
|
27 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Poor suck
|
31 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Premature Birth
|
50 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Prominent forehead
|
25 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Prominent scalp veins
|
1 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | |||||||||
Relative macrocephaly
|
19 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 |