LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 ×
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
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
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
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 1.000 2 2016 2016
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: 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: 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