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: rs121909212
rs121909212
0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1998 2016
dbSNP: rs121909211
rs121909211
0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.100 1.000 13 1998 2019
dbSNP: rs121909208
rs121909208
0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.070 1.000 7 2000 2015
dbSNP: rs121909210
rs121909210
0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.070 1.000 7 1998 2019
dbSNP: rs121909209
rs121909209
0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2000 2007
dbSNP: rs1052006472
rs1052006472
0.827 0.200 5 136060907 missense variant A/G snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2002 2010
dbSNP: rs121909215
rs121909215
0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2005 2009
dbSNP: rs757933370
rs757933370
0.925 0.080 5 136046373 missense variant G/A;T snv 1.5E-04; 4.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006