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: rs1473260982
rs1473260982 		1.000 0.040 5 122077382 stop gained C/A;T snv 4.0E-06
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561417568
rs1561417568 		1.000 0.040 5 122070581 missense variant A/T snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561420103
rs1561420103 		1.000 0.040 5 122075539 stop gained G/A snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs752839330
rs752839330 		1.000 5 122077751 missense variant C/T snv 1.6E-04 1.6E-04
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 0
dbSNP: rs767855588
rs767855588 		1.000 5 122077526 missense variant G/A snv 8.0E-06 5.6E-05
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 0
dbSNP: rs876657852
rs876657852 		0.925 5 122074155 missense variant A/C snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 0
dbSNP: rs886040965
rs886040965 		0.925 0.040 5 122075443 missense variant C/A snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs886040966
rs886040966 		0.882 0.040 5 122077861 stop gained C/T snv
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 0
dbSNP: rs886040966
rs886040966 		0.882 0.040 5 122077861 stop gained C/T snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs886040967
rs886040967 		0.925 0.040 5 122075482 missense variant T/G snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
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
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800449
rs1800449 		0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
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: 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: 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: 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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		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: C1332986
Disease: Childhood Osteosarcoma
Childhood 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: 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: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2014