rs121434455, 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.
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.882 0.360 7 92504812 missense variant A/G snv 7.0E-06 0.800 1.000 4 1997 2005
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
99 0.882 0.360 7 92504812 missense variant A/G snv 7.0E-06 0.800 1.000 4 1997 2001
HEIMLER SYNDROME 1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
12 0.882 0.360 7 92504812 missense variant A/G snv 7.0E-06 0.700 0