rs1799821, CPT2

N. diseases: 8
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.
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2013 2013
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 1992 1992
Carnitine palmitoyl transferase 2 deficiency
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
29 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2015 2015
Encephalitis
CUI: C0014038
Disease: Encephalitis
18 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2014 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2008 2008
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 1992 1992
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
591 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2013 2013
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2014 2014