COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Retinal Diseases ×
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: rs281874657
rs281874657 		0.925 0.160 X 108586717 stop gained C/T snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs281874727
rs281874727 		1.000 0.160 X 108681837 stop gained C/T snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2008 2008