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: rs121964973
rs121964973
CBS
0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 1.000 7 1994 2014
dbSNP: rs121964973
rs121964973
CBS
0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.710 1.000 2 1999 2018
dbSNP: rs121964973
rs121964973
CBS
0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 9 1999 2015
dbSNP: rs121964973
rs121964973
CBS
0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05
CUI: C4017308
Disease: HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE 		0.700 0