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: rs1361324844
rs1361324844
CBS
0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.700 1.000 1 2002 2002
dbSNP: rs1361324844
rs1361324844
CBS
0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 1 2002 2002
dbSNP: rs1361324844
rs1361324844
CBS
0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.700 1.000 1 2002 2002