rs149806989, PEX1

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.
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06 0.700 1.000 2 2009 2010
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06 0.700 1.000 1 2009 2009
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
99 0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06 0.700 1.000 1 2009 2009