rs1554372180, PEX1

N. diseases: 1
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 1.000 0.240 7 92504876 frameshift variant T/-;TT delins 0.700 1.000 1 2015 2015