rs1553314023, HADHA

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.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
51 1.000 0.200 2 26214560 splice acceptor variant TCT/- delins 0.700 0