rs794727835, 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 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05 0.700 1.000 3 1999 2014
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
24 0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05 0.700 0