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.
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
99 0.925 0.240 7 92489364 frameshift variant GACT/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2005 2011
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.925 0.240 7 92489364 frameshift variant GACT/- delins 2.0E-05 1.4E-05 0.700 0