rs1057517152, HSD17B4

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.
Bifunctional peroxisomal enzyme deficiency
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
47 5 119531344 frameshift variant GTAAA/- delins 0.700 0