rs1057517490, PEX1

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.
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.925 0.240 7 92509328 splice donor variant C/A;T snv 0.700 0
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
99 0.925 0.240 7 92509328 splice donor variant C/A;T snv 0.700 0