BCO1, beta-carotene oxygenase 1, 53630

N. diseases: 29; N. variants: 7
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: rs4889293
rs4889293 		1.000 0.040 16 81259125 intron variant C/A;G snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4889294
rs4889294 		16 81270154 splice region variant T/C snv 0.36 0.33
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2008 2008
dbSNP: rs6564863
rs6564863 		1.000 0.040 16 81261288 intron variant T/C snv 0.63
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs119478057
rs119478057 		1.000 0.040 16 81264677 missense variant C/A;T snv 8.0E-06; 1.4E-03
CUI: C2676023
Disease: Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs11646692
rs11646692 		1.000 0.040 16 81238301 upstream gene variant C/G snv 0.38
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12934922
rs12934922 		0.851 0.120 16 81268089 missense variant A/G;T snv 0.36
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12934922
rs12934922 		0.851 0.120 16 81268089 missense variant A/G;T snv 0.36
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs12934922
rs12934922 		0.851 0.120 16 81268089 missense variant A/G;T snv 0.36
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs12934922
rs12934922 		0.851 0.120 16 81268089 missense variant A/G;T snv 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs7501331
rs7501331 		0.882 0.080 16 81280891 missense variant C/T snv 0.21 0.18
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs7501331
rs7501331 		0.882 0.080 16 81280891 missense variant C/T snv 0.21 0.18
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs7501331
rs7501331 		0.882 0.080 16 81280891 missense variant C/T snv 0.21 0.18
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018