rs104894572, GALK1

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.
Deficiency of galactokinase
CUI: C0268155
Disease: Deficiency of galactokinase
22 1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06 0.810 1.000 10 1999 2011
Blindness
CUI: C0456909
Disease: Blindness
34 1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06 0.010 1.000 1 1999 1999