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: rs121964964
rs121964964
CBS
0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 1.000 9 1993 2014
dbSNP: rs121964964
rs121964964
CBS
0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.700 1.000 6 1993 2012
dbSNP: rs121964964
rs121964964
CBS
0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 6 1995 2012
dbSNP: rs121964964
rs121964964
CBS
0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04
CUI: C3502110
Disease: Homocystinuria, Pyridoxine-Responsive
Homocystinuria, Pyridoxine-Responsive 		0.700 0