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: rs199604416
rs199604416
1.000 0.080 5 136046429 missense variant G/T snv 2.8E-05
Schnyder crystalline corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016