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: rs757428597
rs757428597
CBS
0.925 0.160 21 43063992 splice acceptor variant C/A;G snv 8.3E-06
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 3 1999 2003
dbSNP: rs757428597
rs757428597
CBS
0.925 0.160 21 43063992 splice acceptor variant C/A;G snv 8.3E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.700 1.000 1 2003 2003