Disease: Retinal dystrophy with early macular involvement ×
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: rs786205664
rs786205664 		1.000 0.040 1 111120671 missense variant T/A snv
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.800 0
dbSNP: rs786205665
rs786205665 		1.000 0.040 1 111131424 missense variant C/T snv 7.0E-06
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.800 0
dbSNP: rs1057516195
rs1057516195 		1.000 0.040 1 111119909 stop gained C/A snv
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.700 0
dbSNP: rs201422368
rs201422368 		1.000 0.040 1 111120539 stop gained C/T snv 3.6E-05 3.5E-05
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.700 0
dbSNP: rs746559651
rs746559651 		1.000 0.040 1 111126286 frameshift variant C/- delins 1.2E-05 7.1E-06
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.700 0
dbSNP: rs786205661
rs786205661 		1.000 0.040 1 111131489 inframe deletion CAG/- delins
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.700 0
dbSNP: rs786205662
rs786205662 		1.000 0.040 1 111131476 missense variant A/G snv
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		Eye Diseases 0.700 0