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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Allanson Pantzar McLeod syndrome
|
23 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Congenital clubfoot
|
44 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Dilated ventricles (finding)
|
32 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Elevated 7-dehydrocholesterol
|
3 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
High forehead
|
17 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Hypoplasia of the optic nerve
|
14 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Hypoplastic nasal tip
|
2 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Intrauterine retardation
|
56 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Large earlobe
|
2 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Long face
|
12 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Oligohydramnios
|
21 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Partial or complete agenesis of corpus callosum
|
6 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Persistent open anterior fontanelle
|
2 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Pulmonary Stenosis
|
40 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Short nose
|
23 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Thickened nuchal skin fold
|
4 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Wide spaced nipples
|
19 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | ||||||||
Movement Disorders
|
247 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 1.000 | 16 | 1994 | 2013 | |||||
Multiple congenital anomalies
|
350 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 1.000 | 16 | 1994 | 2013 | |||||
Smith-Lemli-Opitz Syndrome
|
96 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 1.000 | 21 | 1998 | 2015 |