rs764771123, PEX2

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 DISORDER 5A (ZELLWEGER)
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
10 0.925 0.080 8 76983834 frameshift variant TGCCACC/- delins 3.2E-05 7.0E-06 0.700 1.000 1 2011 2011
PEROXISOME BIOGENESIS DISORDER 5B
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
11 0.925 0.080 8 76983834 frameshift variant TGCCACC/- delins 3.2E-05 7.0E-06 0.700 1.000 1 2011 2011
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 0.925 0.080 8 76983834 frameshift variant TGCCACC/- delins 3.2E-05 7.0E-06 0.700 1.000 1 2011 2011