rs121913578, MTR

N. diseases: 5
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.
Methylcobalamin Deficiency, CblG Type
9 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.800 1.000 2 1996 1996
Decreased methionine synthase activity
1 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
Homocystinuria
CUI: C0019880
Disease: Homocystinuria
27 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0