rs72558181, MAT1A

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 80275177 missense variant C/T snv 0.810 1.000 12 1995 2015
Hypermethioninemia
CUI: C4048705
Disease: Hypermethioninemia
3 1.000 0.080 10 80275177 missense variant C/T snv 0.010 1.000 1 2013 2013