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: rs2292245
rs2292245
0.925 0.080 3 62203515 missense variant G/A snv 0.19 0.16
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7640737
rs7640737
0.925 0.080 3 62047679 intron variant C/T snv 0.12
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014