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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Apert syndrome
|
24 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.900 | 1.000 | 30 | 1995 | 2018 | ||||||
Abnormality of the skull
|
11 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Craniofacial dysostosis type 1
|
52 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.710 | 1.000 | 10 | 1995 | 2015 | ||||||
Pfeiffer Syndrome
|
36 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.760 | 1.000 | 6 | 1998 | 2014 | ||||||
Craniosynostosis
|
90 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.040 | 1.000 | 4 | 1999 | 2014 | ||||||
Bladder Neoplasm
|
281 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1 | 2014 | 2014 | |||||||
Craniofacial Dysostosis
|
29 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Head and Neck Neoplasms
|
11 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
Congenital Abnormality
|
73 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Congenital premature fusion
|
1 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Deformity
|
26 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Amblyopia
|
29 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Astigmatism
|
45 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Blepharoptosis
|
57 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Myopia
|
167 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Ptosis
|
12 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Strabismus
|
89 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Superior rectus muscle underaction
|
1 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Syndactyly
|
26 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.060 | 1.000 | 6 | 1996 | 2004 | ||||||
Ramer Ladda syndrome
|
2 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
Antley-Bixler Syndrome, Autosomal Dominant
|
13 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
BENT BONE DYSPLASIA SYNDROME
|
10 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
16 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
JACKSON-WEISS SYNDROME
|
20 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
Lacrimoauriculodentodigital syndrome
|
33 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 |