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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Bohring syndrome
|
15 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Central hypotonia
|
25 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Depressed nasal bridge
|
39 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Facial hypotonia
|
6 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Feeding difficulties
|
62 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Feeding difficulties in infancy
|
22 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Full cheeks
|
4 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Intrauterine retardation
|
56 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Low Vision
|
51 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Microcephaly (physical finding)
|
246 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Micrognathism
|
53 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Nasal bridge wide
|
29 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Seizures
|
553 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Sleep Apnea Syndromes
|
18 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Synophrys
|
23 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Thick hair
|
3 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
Ulnar deviation of the wrist
|
9 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 |