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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Absent fifth toenail
|
2 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Aggressive behavior
|
22 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Anteverted nostril
|
35 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Autistic Disorder
|
395 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Fullness of paranasal tissue
|
2 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Gait, Unsteady
|
14 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Irregularly spaced teeth
|
2 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Low anterior hairline
|
17 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Macrostomia
|
11 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
|
5 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Microcephaly (physical finding)
|
246 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Overbite
|
5 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Poor school performance
|
411 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Seizures
|
553 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Short distal phalanx of the 5th finger
|
2 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Temporal hypotrichosis
|
2 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
Thin upper lip vermilion
|
25 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 |