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: rs62637012
rs62637012 		0.925 0.040 17 6426684 missense variant A/G snv
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		Eye Diseases 0.800 1.000 3 2000 2007
dbSNP: rs62637014
rs62637014 		0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		Eye Diseases 0.700 1.000 7 2000 2015
dbSNP: rs1264794214
rs1264794214 		1.000 0.040 17 6433930 missense variant A/G snv 7.2E-06
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		Eye Diseases 0.700 1.000 5 2011 2017
dbSNP: rs62637014
rs62637014 		0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 2 2000 2019
dbSNP: rs142326926
rs142326926 		1.000 0.040 17 6426615 missense variant C/T snv 3.2E-05 4.9E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs281865195
rs281865195 		0.925 0.040 17 6425551 inframe deletion CAGGTGGCTCTG/- delins 8.7E-04 6.5E-04
CUI: C2751764
Disease: CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) 		Eye Diseases 0.700 0
dbSNP: rs281865195
rs281865195 		0.925 0.040 17 6425551 inframe deletion CAGGTGGCTCTG/- delins 8.7E-04 6.5E-04
CUI: C2751763
Disease: Retinitis Pigmentosa, Juvenile, Aipl1-Related
Retinitis Pigmentosa, Juvenile, Aipl1-Related 		Eye Diseases 0.700 0
dbSNP: rs62637010
rs62637010 		1.000 0.040 17 6426934 missense variant C/G snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62637011
rs62637011 		1.000 0.040 17 6426906 missense variant A/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62637012
rs62637012 		0.925 0.040 17 6426684 missense variant A/G snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62637016
rs62637016 		1.000 0.040 17 6425604 frameshift variant CT/- delins
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		Eye Diseases 0.700 0
dbSNP: rs150427474
rs150427474 		1.000 0.040 17 6425644 missense variant C/A;T snv 3.8E-03; 8.0E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs150427474
rs150427474 		1.000 0.040 17 6425644 missense variant C/A;T snv 3.8E-03; 8.0E-05
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs200125117
rs200125117 		1.000 0.040 17 6428362 stop gained G/A snv 2.4E-05
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62637015
rs62637015 		1.000 0.040 17 6425710 missense variant C/A;T snv 2.6E-03; 1.2E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs62637015
rs62637015 		1.000 0.040 17 6425710 missense variant C/A;T snv 2.6E-03; 1.2E-05
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2006 2006