rs61752122, PEX2

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.
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 1.000 0.080 8 76983896 frameshift variant TCTCA/- delins 1.6E-05 1.4E-05 0.700 1.000 2 2004 2011
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
10 1.000 0.080 8 76983896 frameshift variant TCTCA/- delins 1.6E-05 1.4E-05 0.700 0