Source: BEFREE ×
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: rs121909208
rs121909208
0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0162281
Disease: Corneal deposit
Corneal deposit
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 2003 2017
dbSNP: rs121909210
rs121909210
0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0162281
Disease: Corneal deposit
Corneal deposit
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121909211
rs121909211
0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0162281
Disease: Corneal deposit
Corneal deposit
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010