VCAN, versican, 1462

N. diseases: 205; N. variants: 16
Disease: Hyaloideoretinal degeneration of Wagner ×
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: rs80356553
rs80356553 		1.000 0.040 5 83542269 splice donor variant G/A;T snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 4 2006 2013
dbSNP: rs80356554
rs80356554 		1.000 0.040 5 83537006 splice acceptor variant G/A;C;T snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 3 2006 2013
dbSNP: rs80356555
rs80356555 		1.000 0.040 5 83537005 splice acceptor variant A/G;T snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 2 2005 2011
dbSNP: rs397515437
rs397515437 		1.000 0.040 5 83542270 splice donor variant T/A snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs80356556
rs80356556 		1.000 0.040 5 83537002 splice region variant T/A;C snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs864309744
rs864309744 		1.000 0.040 5 83537001 splice region variant T/A snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 1 2013 2013