rs121964969, CBS

N. diseases: 3
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 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.810 1.000 31 1994 2017
Homocystinuria, Pyridoxine-Responsive
CUI: C3502110
Disease: Homocystinuria, Pyridoxine-Responsive
11 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.700 0
Homocystinuria
CUI: C0019880
Disease: Homocystinuria
27 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017