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 dermal melanocytosis
|
3 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Facial hypotonia
|
6 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Hyperactive behavior
|
112 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Hyperphagia
|
3 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Hypertrichosis
|
27 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Hypoplastic finger
|
3 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Long eyelashes
|
17 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Long face
|
12 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Long palm
|
2 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Low anterior hairline
|
17 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Micrognathism
|
53 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Moderate global developmental delay
|
21 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Muscle Weakness
|
87 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Myopia
|
167 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Narrow face
|
6 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Overbite
|
5 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Overfolding of the superior helices
|
7 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Single transverse palmar crease
|
14 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
Ventouse delivery (finding)
|
3 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 |