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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Craniofacial dysostosis type 1
|
52 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.800 | 1.000 | 16 | 1994 | 2007 | ||||||
Apert syndrome
|
24 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 1994 | 2017 | ||||||
Abnormality of the pinna
|
9 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Abnormality of the posterior cranial fossa
|
1 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Abnormality of the zygomatic bone
|
1 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Brachyturricephaly
|
2 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Choanal stenosis
|
2 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Cranial asymmetry
|
3 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Deviated nasal septum
|
1 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Dilation of lateral ventricles
|
3 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Downward slant of palpebral fissure
|
49 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Facial asymmetry
|
13 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Flat occiput
|
6 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
High forehead
|
17 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Hydrocephalus
|
37 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Hypointensity of cerebral white matter on MRI
|
1 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Mild fetal ventriculomegaly
|
1 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Narrow forehead
|
20 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Shallow orbits
|
4 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Short neck
|
29 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Wide anterior fontanel
|
5 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
JACKSON-WEISS SYNDROME
|
20 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |