rs1567230528, AP4E1

N. diseases: 2
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.
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 15 50949824 splice acceptor variant A/C snv 0.700 0
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
1 1.000 15 50949824 splice acceptor variant A/C snv 0.700 0