LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
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: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.030 0.667 3 2012 2015
dbSNP: rs2288393
rs2288393 		1.000 0.040 5 122077195 non coding transcript exon variant C/A;G snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.030 0.667 3 2012 2015
dbSNP: rs2956540
rs2956540 		1.000 0.040 5 122073485 intron variant G/A;C snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.030 1.000 3 2015 2015
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 2 2011 2017
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2014
dbSNP: rs876657852
rs876657852 		0.925 5 122074155 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2016 2016
dbSNP: rs886040965
rs886040965 		0.925 0.040 5 122075443 missense variant C/A snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 1.000 2 2016 2016
dbSNP: rs886040966
rs886040966 		0.882 0.040 5 122077861 stop gained C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2016 2019
dbSNP: rs886040967
rs886040967 		0.925 0.040 5 122075482 missense variant T/G snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 1.000 2 2016 2016
dbSNP: rs10519694
rs10519694 		1.000 0.040 5 122071524 intron variant C/T snv 0.21
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		Stomatognathic Diseases 0.010 1.000 1 2009 2009