rs754980119, MTHFR

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.
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
78 0.925 0.280 1 11802962 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.810 1.000 8 1995 2015
Methylenetetrahydrofolate reductase deficiency
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
4 0.925 0.280 1 11802962 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2014 2014