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: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.900 0.979 97 2006 2019
dbSNP: rs3750848
rs3750848 		1.000 0.040 10 122455799 intron variant T/G snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 3 2010 2013
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.800 1.000 14 2008 2016
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.800 1.000 13 2010 2017
dbSNP: rs3750847
rs3750847 		0.882 0.040 10 122455905 intron variant C/T snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.720 1.000 3 2011 2018
dbSNP: rs3750846
rs3750846 		0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2016 2018
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 3 2012 2017
dbSNP: rs3750846
rs3750846 		0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3750846
rs3750846 		0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3750846
rs3750846 		0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.100 0.923 26 2007 2019
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 14 2007 2018
dbSNP: rs2736911
rs2736911 		0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.060 0.833 6 2012 2016
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C1260959
Disease: Drusen
Drusen 		0.050 1.000 5 2009 2018
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation 		0.050 1.000 5 2010 2017
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.040 1.000 4 2013 2019
dbSNP: rs10490923
rs10490923 		0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 0.500 2 2012 2014
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		0.020 1.000 2 2016 2017
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0339546
Disease: Retinal Pigment Epithelial Detachment
Retinal Pigment Epithelial Detachment 		Eye Diseases 0.020 1.000 2 2011 2017
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 2017 2018
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C4703391
Disease: Choroidal vascular hyperpermeability
Choroidal vascular hyperpermeability 		0.020 1.000 2 2014 2016
dbSNP: rs10490923
rs10490923 		0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10490924
rs10490924 		0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010