Source: ALL
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.
Death in childhood
CUI: C1843392
Disease: Death in childhood
2 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Gliosis
CUI: C0017639
Disease: Gliosis
3 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Hemimegalencephaly
CUI: C0431391
Disease: Hemimegalencephaly
4 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
5 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
Sudden death
CUI: C0011071
Disease: Sudden death
3 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0