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 cortical gyration
|
12 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Absent speech
|
72 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Acid reflux
|
58 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Alternating Exotropia
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Anteverted nostril
|
35 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Aqueductal Stenosis
|
2 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Calcaneovalgus deformity
|
2 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Cervical spinal canal stenosis
|
2 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Communicating Hydrocephalus
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Constipation
|
57 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Cortical visual impairment
|
27 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Delayed ability to sit
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Delayed ability to stand
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Delayed fine motor development
|
13 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Delayed speech and language development
|
192 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Depressed nasal bridge
|
39 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Dilated ventricles (finding)
|
32 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Dysgenesis of corpus callosum
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Ectopic Tissue
|
4 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
EEG with generalized slow activity
|
6 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Extra-axial cerebrospinal fluid accumulation
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
FOCAL CORTICAL DYSPLASIA OF TAYLOR
|
27 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2015 | 2016 | ||||||
Generalized hypotonia
|
164 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Gestational Diabetes
|
224 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Gross motor development delay
|
59 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |