rs2229291, 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 encephalopathy
CUI: C1306587
Disease: Acute encephalopathy
3 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2012 2014
Fever
CUI: C0015967
Disease: Fever
66 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2014 2014
Acute encephalopathy with biphasic seizures and late reduced diffusion
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
1 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2019 2019
Carnitine palmitoyl transferase 2 deficiency
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
29 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2015 2015
Encephalitis
CUI: C0014038
Disease: Encephalitis
18 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2014 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2008 2008
Influenza
CUI: C0021400
Disease: Influenza
17 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2012 2012
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2014 2014