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: rs147394623
rs147394623
0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04
CUI: C0456909
Disease: Blindness
Blindness
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017