rs74315293, CPT2

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.
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
54 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.800 1.000 2 1992 1996
Carnitine palmitoyl transferase 2 deficiency
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
29 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.710 1.000 1 2007 2007
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
36 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 1992 1992
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 1992 1992