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: rs148865119
rs148865119
CBS
0.925 0.160 21 43072048 missense variant G/A;C snv 1.5E-04; 4.0E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 1.000 8 1998 2015
dbSNP: rs148865119
rs148865119
CBS
0.925 0.160 21 43072048 missense variant G/A;C snv 1.5E-04; 4.0E-06
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 8 1998 2015