rs368166217, 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 34648846 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 25 1991 2019