rs121434582, ALDH18A1

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.
De Barsy syndrome
CUI: C0268354
Disease: De Barsy syndrome
12 1.000 0.280 10 95643044 missense variant C/A;T snv 1.2E-05 0.700 1.000 4 2000 2014