rs774047299, 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 95606805 missense variant T/C;G snv 8.4E-05; 8.0E-06 0.800 0