rs397514454, ADK

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.
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
3 1.000 10 74200787 missense variant G/A snv 0.800 1.000 1 2011 2011