rs875989801, ALDH5A1

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.
succinic semialdehyde dehydrogenase deficiency
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
17 1.000 0.120 6 24528167 splice donor variant GTA/TT delins 0.700 0