Source: ALL
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: rs121918632
rs121918632
0.851 0.120 2 165996099 missense variant A/G snv 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018