Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ×
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: rs368217569
rs368217569 		0.925 0.080 13 49549584 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.800 1.000 1 2016 2016
dbSNP: rs200826424
rs200826424 		0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs556664001
rs556664001 		1.000 13 49541798 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs772592456
rs772592456 		0.882 0.080 13 49549573 missense variant C/A snv 8.0E-06
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs879255547
rs879255547 		0.925 0.080 13 49544745 missense variant C/A snv
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs143970072
rs143970072 		1.000 13 49544758 missense variant T/C snv 9.6E-05 4.2E-05
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 0