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: rs121909215
rs121909215
0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0339271
Disease: Salzmann nodular dystrophy
Salzmann nodular dystrophy
Eye Diseases 0.010 1.000 1 2009 2009