Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3750848
rs3750848
ARMS2 ; LOC105378525
1.000 0.040 10 122455799 intron variant T/G snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.810 1.000 3 2010 2013
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
0.882 0.040 10 122455905 intron variant C/T snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.720 1.000 3 2011 2018
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
0.882 0.040 10 122455905 intron variant C/T snv 0.23
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
0.882 0.040 10 122455905 intron variant C/T snv 0.23
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2015 2015
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
0.882 0.040 10 122455905 intron variant C/T snv 0.23
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.010 1.000 1 2015 2015
dbSNP: rs3750846
rs3750846
ARMS2 ; LOC105378525
0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.710 1.000 2 2016 2018
dbSNP: rs3750846
rs3750846
ARMS2 ; LOC105378525
0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		0.700 1.000 1 2016 2016
dbSNP: rs3750846
rs3750846
ARMS2 ; LOC105378525
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 		0.700 1.000 1 2016 2016
dbSNP: rs3750846
rs3750846
ARMS2 ; LOC105378525
0.851 0.040 10 122456049 intron variant T/C snv 0.24
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.700 1.000 1 2016 2016
dbSNP: rs36212733
rs36212733
ARMS2 ; LOC105378525
1.000 0.040 10 122455695 intron variant T/C snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2017 2017
dbSNP: rs36212732
rs36212732
ARMS2 ; LOC105378525
1.000 0.040 10 122455682 intron variant A/G snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2017 2017
dbSNP: rs2736911
rs2736911
ARMS2 ; LOC105378525
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 		0.060 0.833 6 2012 2016
dbSNP: rs2736911
rs2736911
ARMS2 ; LOC105378525
0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2008 2008
dbSNP: rs2736911
rs2736911
ARMS2 ; LOC105378525
0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.010 1.000 1 2012 2012
dbSNP: rs10664316
rs10664316
ARMS2 ; LOC105378525
1.000 10 122456869 intron variant -/A;AC ins 7.7E-05
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2009 2009
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
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 		0.900 0.979 97 2006 2019
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
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
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.800 1.000 14 2008 2016
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
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 		0.100 1.000 14 2007 2018
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
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 		0.800 1.000 13 2010 2017
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
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
ARMS2 ; LOC105378525
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
ARMS2 ; LOC105378525
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: rs10490924
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		0.700 1.000 3 2012 2017
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
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