rs1417529866, ADK

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.
Hepatic methionine adenosyltransferase deficiency
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
15 1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019
Hypermethioninemia
CUI: C4048705
Disease: Hypermethioninemia
3 1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019