rs771067891, GALK1

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.
Deficiency of galactokinase
CUI: C0268155
Disease: Deficiency of galactokinase
22 1.000 0.120 17 75765033 frameshift variant -/GC delins 0.700 0