rs111033654, GALT

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.
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
233 1.000 0.120 9 34647169 missense variant G/T snv 0.800 1.000 20 1991 2016