rs80356779, CPT1A

N. diseases: 10
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 1A deficiency
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
55 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.800 1.000 9 1998 2011
CPT1A ARCTIC VARIANT
CUI: C4749136
Disease: CPT1A ARCTIC VARIANT
1 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.700 0
Dental caries
CUI: C0011334
Disease: Dental caries
126 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
Encephalomyelitis
CUI: C0014070
Disease: Encephalomyelitis
7 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
Infectious Otitis Media
CUI: C2827407
Disease: Infectious Otitis Media
6 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
Lower respiratory tract infection
CUI: C0149725
Disease: Lower respiratory tract infection
7 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
Obesity
CUI: C0028754
Disease: Obesity
1111 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2012 2012
Otitis Media
CUI: C0029882
Disease: Otitis Media
8 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2012 2012