rs28936375, CPT2

N. diseases: 15
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 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.800 1.000 12 1992 2005
Carnitine palmitoyl transferase 2 deficiency
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
29 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.720 1.000 8 1995 2008
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
54 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 1.000 7 1995 2013
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
24 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Chronic pain
CUI: C0150055
Disease: Chronic pain
19 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
CUI: C3280160
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
6 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Inappropriate sinus tachycardia
CUI: C1881170
Disease: Inappropriate sinus tachycardia
1 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Polyarthritis
CUI: C0162323
Disease: Polyarthritis
9 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Sinus Tachycardia
CUI: C0039239
Disease: Sinus Tachycardia
5 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.010 1.000 1 2002 2002
Metabolic myopathy
CUI: C0270984
Disease: Metabolic myopathy
2 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.010 1.000 1 2020 2020