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: rs398123151
rs398123151
CBS
0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.810 1.000 10 1994 2019
dbSNP: rs398123151
rs398123151
CBS
0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 6 1999 2015