rs118203984, ALDH5A1

N. diseases: 2
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 0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06 0.800 1.000 5 2001 2017
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2019 2019