CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17610395
rs17610395 		11 68794860 missense variant C/G;T snv
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2229738
rs2229738 		11 68794860 missense variant C/G;T snv 6.3E-02
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2229738
rs2229738 		11 68794860 missense variant C/G;T snv 6.3E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2278907
rs2278907 		11 68756585 3 prime UTR variant G/A snv 0.51
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs3018712
rs3018712 		11 68754585 upstream gene variant G/A snv 0.15
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs78863347
rs78863347 		11 68824581 intron variant T/C snv 1.1E-04
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs7938117
rs7938117 		11 68830586 intron variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7938117
rs7938117 		11 68830586 intron variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7938117
rs7938117 		11 68830586 intron variant G/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7938117
rs7938117 		11 68830586 intron variant G/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1998 2011
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0029882
Disease: Otitis Media
Otitis Media 		Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779 		0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C4749136
Disease: CPT1A ARCTIC VARIANT
CPT1A ARCTIC VARIANT 		0.700 0
dbSNP: rs80356780
rs80356780 		0.925 0.160 11 68760238 missense variant C/T snv 8.1E-06
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1998 2004
dbSNP: rs80356780
rs80356780 		0.925 0.160 11 68760238 missense variant C/T snv 8.1E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28936374
rs28936374 		1.000 0.080 11 68760241 missense variant C/T snv
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2004
dbSNP: rs80356775
rs80356775 		1.000 0.080 11 68807553 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1998 2004
dbSNP: rs80356776
rs80356776 		1.000 0.080 11 68793341 missense variant G/A snv
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1998 2004