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: rs121964962
rs121964962
CBS
0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.810 1.000 11 1993 2018
dbSNP: rs121964962
rs121964962
CBS
0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 7 1993 2013
dbSNP: rs121964962
rs121964962
CBS
0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.700 1.000 3 2002 2010
dbSNP: rs121964962
rs121964962
CBS
0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04
CUI: C4017308
Disease: HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE 		0.700 0