Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794727835
rs794727835
CBS
0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.700 1.000 3 1999 2014
dbSNP: rs794727835
rs794727835
CBS
0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 0