Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514452
rs397514452
1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
0.800 1.000 1 2011 2011
dbSNP: rs397514453
rs397514453
1.000 10 74525404 missense variant A/C snv
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
0.800 1.000 1 2011 2011
dbSNP: rs397514454
rs397514454
1.000 10 74200787 missense variant G/A snv
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
0.800 1.000 1 2011 2011