| 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. | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Communicating Hydrocephalus
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
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 | ||||||
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 | ||||||
Hyperpigmented streaks
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Irregular hyperpigmentation of back
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Vertebral arch anomaly
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Alternating Exotropia
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hyperextensibility at wrists
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hyperpigmented/hypopigmented macules
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Macular hypopigmented whorls, streaks, and patches
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
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 | ||||||
Irregular hyperpigmentation
|
2 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Linear hyperpigmentation
|
2 | 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 | ||||||
Neuronal heterotopia
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Small labia majora
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
No social interaction
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Optic Disk Drusen
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Premature birth following premature rupture of fetal membranes
|
4 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Severe receptive language delay
|
4 | 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 | |||||||||
Wide anterior fontanel
|
5 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |