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: rs886040965
rs886040965
0.925 0.040 5 122075443 missense variant C/A snv
AORTIC ANEURYSM, FAMILIAL THORACIC 10
0.800 1.000 2 2016 2016
dbSNP: rs886040967
rs886040967
0.925 0.040 5 122075482 missense variant T/G snv
AORTIC ANEURYSM, FAMILIAL THORACIC 10
0.800 1.000 2 2016 2016
dbSNP: rs876657852
rs876657852
0.925 5 122074155 missense variant A/C snv
AORTIC ANEURYSM, FAMILIAL THORACIC 10
0.800 0
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: rs876657852
rs876657852
0.925 5 122074155 missense variant A/C snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 2 2016 2016
dbSNP: rs886040966
rs886040966
0.882 0.040 5 122077861 stop gained C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 2 2016 2019
dbSNP: rs1473260982
rs1473260982
1.000 0.040 5 122077382 stop gained C/A;T snv 4.0E-06
Congenital aneurysm of ascending aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs1561417568
rs1561417568
1.000 0.040 5 122070581 missense variant A/T snv
Congenital aneurysm of ascending aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs1561420103
rs1561420103
1.000 0.040 5 122075539 stop gained G/A snv
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
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
AORTIC ANEURYSM, FAMILIAL THORACIC 10
0.700 0
dbSNP: rs886040965
rs886040965
0.925 0.040 5 122075443 missense variant C/A snv
Congenital aneurysm of ascending aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs886040966
rs886040966
0.882 0.040 5 122077861 stop gained C/T snv
AORTIC ANEURYSM, FAMILIAL THORACIC 10
0.700 0
dbSNP: rs886040966
rs886040966
0.882 0.040 5 122077861 stop gained C/T snv
Congenital aneurysm of ascending aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs886040967
rs886040967
0.925 0.040 5 122075482 missense variant T/G snv
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: 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