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: 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: 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: 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: 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
dbSNP: rs80356777
rs80356777 		1.000 0.080 11 68784909 missense variant G/A snv 4.0E-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 0.800 1.000 8 1998 2004
dbSNP: rs80356778
rs80356778 		1.000 0.080 11 68780737 missense variant T/C 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: rs80356783
rs80356783 		1.000 0.080 11 68784951 missense variant A/C snv 1.2E-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 8 1998 2004
dbSNP: rs80356784
rs80356784 		1.000 0.080 11 68780705 missense variant C/A;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: rs80356787
rs80356787 		1.000 0.080 11 68784899 missense variant T/C 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: rs80356789
rs80356789 		1.000 0.080 11 68793370 missense variant G/A;C 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 8 1998 2004
dbSNP: rs80356790
rs80356790 		1.000 0.080 11 68781882 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
dbSNP: rs80356793
rs80356793 		1.000 0.080 11 68780647 missense variant A/G 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: rs80356791
rs80356791 		1.000 0.080 11 68775398 missense variant T/C snv 4.0E-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: rs80356796
rs80356796 		1.000 0.080 11 68793336 missense variant G/A;C 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 0.700 1.000 8 1998 2004
dbSNP: rs148059333
rs148059333 		1.000 0.080 11 68784814 splice donor variant C/T snv 4.1E-05 4.9E-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 0.700 1.000 1 2016 2016
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: rs189174414
rs189174414 		1.000 0.080 11 68780734 missense variant T/G snv 2.2E-04 2.0E-04
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 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