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: rs778220779
rs778220779
CBS
0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 1.000 4 1994 2018
dbSNP: rs778220779
rs778220779
CBS
0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.700 1.000 2 2002 2012
dbSNP: rs778220779
rs778220779
CBS
0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.700 1.000 2 2002 2012