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 eyebrow morphology
|
1 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Abnormal shape of the frontal region
|
2 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Laryngeal Obstruction
|
2 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Recurrent upper respiratory tract infection
|
3 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Congenital nystagmus
|
5 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Diplopia
|
5 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Hypoplasia of the maxilla
|
5 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Convex nasal ridge
|
8 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Scaphycephaly
|
8 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Exophthalmos
|
12 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Broad forehead
|
13 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Sagittal craniosynostosis
|
13 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
16 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Synophrys
|
23 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Prominent forehead
|
25 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Stereotypic Movement Disorder
|
26 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Motor delay
|
34 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Downward slant of palpebral fissure
|
49 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Craniofacial dysostosis type 1
|
52 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Strabismus
|
89 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
Craniosynostosis
|
90 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 |