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: rs763290176
rs763290176
CBS
0.925 0.160 21 43063899 splice donor variant C/T snv 8.1E-06
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 4 1999 2018
dbSNP: rs763290176
rs763290176
CBS
0.925 0.160 21 43063899 splice donor variant C/T snv 8.1E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.700 1.000 2 2004 2006