CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs715
rs715
1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2016 2016