rs368311455, CPT2

N. diseases: 4
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 palmitoyl transferase 2 deficiency
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
29 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.700 1.000 6 2006 2017
Encephalomyelitis
CUI: C0014070
Disease: Encephalomyelitis
7 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2019 2019
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2008 2008
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2019 2019