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: rs1347651454
rs1347651454
CBS
0.882 0.160 21 43065653 missense variant C/T snv 5.4E-06
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 10 1995 2012
dbSNP: rs1347651454
rs1347651454
CBS
0.882 0.160 21 43065653 missense variant C/T snv 5.4E-06
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.700 1.000 2 1999 2012