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.
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
Poor eye contact
CUI: C1445953
Disease: Poor eye contact
6 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
Seizures
CUI: C0036572
Disease: Seizures
553 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
Upper limb spasticity
CUI: C1273957
Disease: Upper limb spasticity
1 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
Widened subarachnoid space
CUI: C1846151
Disease: Widened subarachnoid space
1 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019