rs61750415, PEX1

N. diseases: 4
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 0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 0.700 1.000 10 1999 2017
HEIMLER SYNDROME 1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
12 0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 0.700 1.000 7 1999 2017
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 0.700 1.000 7 1999 2017
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 0.700 1.000 1 1999 1999