rs2230199, C3

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.900 0.852 27 2009 2020
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.720 1.000 4 2012 2016
Exudative age-related macular degeneration
109 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.700 1.000 2 2012 2016
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.700 1.000 2 2012 2016
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.040 0.750 4 2009 2020
Disorder of eye
CUI: C0015397
Disease: Disorder of eye
14 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2017 2017
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2019 2019
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2019 2019
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2019 2019
Retinal Pigment Epithelial Detachment
3 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2020 2020