rs730882240, PIGQ

N. diseases: 3
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.
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
Seizures, intractable
CUI: C2674422
Disease: Seizures, intractable
6 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0