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: rs121909211
rs121909211
0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0271288
Disease: Corneal guttata
Corneal guttata
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2000 2019