LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Disease: Keratoconus ×
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: 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