rs121964963, CBS

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.
Cystathionine beta-Synthase Deficiency Disease
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
118 0.925 0.160 21 43066260 missense variant G/A snv 4.0E-06 0.800 1.000 21 1994 2014
Homocystinuria, Pyridoxine-Responsive
CUI: C3502110
Disease: Homocystinuria, Pyridoxine-Responsive
11 0.925 0.160 21 43066260 missense variant G/A snv 4.0E-06 0.700 0