rs1361324844, 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 43059228 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2002 2002
Homocystinuria
CUI: C0019880
Disease: Homocystinuria
27 0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2002 2002
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
24 0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2002 2002