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 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.820 | 1.000 | 19 | 1994 | 2007 | ||||||
Pfeiffer Syndrome
|
36 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 14 | 1995 | 2015 | ||||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
16 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | ||||||
JACKSON-WEISS SYNDROME
|
20 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 1994 | 2015 | ||||||
Craniofacial Dysostosis
|
29 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 1996 | 2006 | ||||||
Apert syndrome
|
24 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||
Craniosynostosis
|
90 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||||
Antley-Bixler Syndrome, Autosomal Dominant
|
13 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
BENT BONE DYSPLASIA SYNDROME
|
10 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Brachyturricephaly
|
2 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Broad hallux
|
14 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Broad thumbs
|
11 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Choanal stenosis
|
2 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Depressed nasal tip
|
3 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Downward slant of palpebral fissure
|
49 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Exophthalmos
|
12 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Facial asymmetry
|
13 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Flat occiput
|
6 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Lacrimoauriculodentodigital syndrome
|
33 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Micrognathism
|
53 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Saethre-Chotzen Syndrome
|
33 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
|
9 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Short upper lip
|
1 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Stomach Neoplasms
|
55 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 |