rs121964972, 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 43060528 missense variant G/A snv 2.9E-05 0.800 1.000 28 1994 2014
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
24 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.700 1.000 8 1997 2014
HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
CUI: C4017308
Disease: HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
3 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.700 0
Hepatic methionine adenosyltransferase deficiency
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
15 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.010 1.000 1 2003 2003
Hypermethioninemia
CUI: C4048705
Disease: Hypermethioninemia
3 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.010 1.000 1 2003 2003