DECR1, 2,4-dienoyl-CoA reductase 1, 1666

N. diseases: 399; N. variants: 8
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: rs16902273
rs16902273 		1.000 0.040 8 90006279 splice donor variant T/A snv 8.6E-02 8.8E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs1281390228
rs1281390228 		1.000 0.120 8 90036907 missense variant C/G snv
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2004 2009
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1314386070
rs1314386070 		0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs137876000
rs137876000 		8 90042763 missense variant G/A snv 2.2E-04 1.1E-04
CUI: C0018965
Disease: Hematuria
Hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs201405525
rs201405525 		0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2016 2016
dbSNP: rs201405525
rs201405525 		0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs201405525
rs201405525 		0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs533450458
rs533450458 		0.925 0.120 8 90042781 missense variant C/T snv 5.5E-04 7.7E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs533450458
rs533450458 		0.925 0.120 8 90042781 missense variant C/T snv 5.5E-04 7.7E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs752317734
rs752317734 		0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734 		0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734 		0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734 		0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734 		0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs758837678
rs758837678 		0.925 0.120 8 90001503 missense variant C/T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs758837678
rs758837678 		0.925 0.120 8 90001503 missense variant C/T snv
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007