rs121964971, CBS

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cystathionine beta-Synthase Deficiency Disease
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
118 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.710 1.000 20 1994 2014
Homocystinuria
CUI: C0019880
Disease: Homocystinuria
27 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.020 1.000 2 2002 2008
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.020 0.500 2 2008 2009
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
24 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.010 1.000 1 2002 2002
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
83 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.010 1 2009 2009