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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Arachnodactyly
|
25 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Camptodactyly of toe
|
1 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital contractural arachnodactyly
|
48 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Convex nasal ridge
|
8 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Crumpled ear
|
5 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Deep philtrum
|
5 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture - elbow
|
14 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture - wrist
|
4 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture of finger
|
4 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture of hip
|
5 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture of proximal interphalangeal joint
|
7 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Long toe
|
8 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Microretrognathia
|
6 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Prominent glabella
|
3 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Scaphycephaly
|
8 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Sparse eyebrow
|
6 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Sparse eyelashes
|
4 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Sunken eyes
|
54 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Thoracic scoliosis
|
5 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Thoracolumbar scoliosis
|
17 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Vertical Talus
|
20 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 |