Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Snowflake vitreoretinal degeneration
CUI: C1860405
Disease: Snowflake vitreoretinal degeneration
1 0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06 0.810 1.000 2 2008 2013
Vitreoretinal degeneration
CUI: C0344290
Disease: Vitreoretinal degeneration
6 0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06 0.020 1.000 2 2008 2013
Vitreous degeneration
CUI: C0155366
Disease: Vitreous degeneration
1 0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013