C2, complement C2, 717

N. diseases: 71; N. variants: 39
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: rs9332739
rs9332739
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.860 1.000 8 2006 2018
dbSNP: rs9380272
rs9380272
1.000 0.040 6 31938233 intron variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1042663
rs1042663
0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs544167
rs544167
0.925 0.160 6 31922381 intron variant T/G snv 7.3E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs550605
rs550605
0.925 0.160 6 31939370 intron variant T/C snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs547154
rs547154
0.882 0.160 6 31943161 intron variant G/T snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.100 1.000 14 2007 2018
dbSNP: rs1467528955
rs1467528955
1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.040 1.000 4 2006 2010
dbSNP: rs757537938
rs757537938
0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.030 1.000 3 2006 2009
dbSNP: rs138195505
rs138195505
0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.020 1.000 2 2007 2012