Disease: MACULAR DYSTROPHY WITH CENTRAL CONE 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: rs150418024
rs150418024 		1.000 4 127921956 missense variant C/G;T snv 2.4E-03; 4.0E-06
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		0.800 1.000 1 2015 2015
dbSNP: rs724159970
rs724159970 		0.925 0.120 4 127921733 stop gained C/A snv 4.0E-06 7.0E-06
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		0.700 0
dbSNP: rs724159971
rs724159971 		0.925 0.120 4 127920743 stop gained G/A snv 2.0E-05 2.8E-05
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		0.700 0
dbSNP: rs727502800
rs727502800 		0.925 0.120 4 127921860 missense variant C/G snv
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		0.700 0