rs730882249, AP4M1

N. diseases: 6
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.
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
CNS hypomyelination
CUI: C4025616
Disease: CNS hypomyelination
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
Spastic Paraplegia-50, Autosomal Recessive
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
8 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0