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: rs1800449
rs1800449
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment
Eye Diseases 0.010 1.000 1 2013 2013