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: rs5742905
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.850 0.974 15 1984 2019
dbSNP: rs5742905
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.760 0.933 9 1995 2019
dbSNP: rs5742905
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv
CUI: C3502110
Disease: Homocystinuria, Pyridoxine-Responsive
Homocystinuria, Pyridoxine-Responsive 		0.720 1.000 0 1995 2007
dbSNP: rs5742905
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 18 1991 2014