rs74315294, CPT2

N. diseases: 6
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, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
36 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.800 1.000 12 1992 2005
Carnitine palmitoyl transferase 2 deficiency
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
29 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.720 1.000 19 1989 2017
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
54 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.700 1.000 8 1993 2013
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.700 1.000 1 2017 2017
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
24 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.700 0
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
CUI: C3280160
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
6 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.700 0