Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.030 1.000 3 2007 2015
dbSNP: rs2275703
rs2275703
3 0.923 0.071 1 160195305 intron variant A/C snp 0.37 0.020 0.500 2 2007 2014
dbSNP: rs8192284
rs8192284
7 0.801 0.429 1 154454494 missense variant snp 0.020 0.500 2 2007 2009
dbSNP: rs10462020
rs10462020
2 1.000 0.036 1 7820623 missense variant T/G snp 0.17 0.16 0.010 1.000 1 2011 2011
dbSNP: rs10489177
rs10489177
4 0.923 0.107 1 169793666 missense variant T/A,G snp 4.1E-06; 0.19 0.17 0.010 1.000 1 2014 2014
dbSNP: rs10494366
rs10494366
6 0.878 0.143 1 162115895 intron variant G/T snp 0.55 0.010 1.000 1 2010 2010
dbSNP: rs1061170
rs1061170
CFH
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.010 < 0.001 1 2007 2007
dbSNP: rs1137100
rs1137100
20 0.692 0.464 1 65570758 missense variant A/G snp 0.30 0.28 0.010 1.000 1 2006 2006
dbSNP: rs1137101
rs1137101
41 0.605 0.679 1 65592830 missense variant A/G snp 0.51 0.53 0.010 1.000 1 2006 2006
dbSNP: rs11575937
rs11575937
17 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2000 2000
dbSNP: rs1205
rs1205
CRP
30 0.652 0.500 1 159712443 3 prime UTR variant C/T snp 0.32 0.010 1.000 1 2011 2011
dbSNP: rs12144939
rs12144939
CFH
3 0.923 0.071 1 196729815 intron variant G/A,T snp 1.9E-02; 0.21 0.010 1.000 1 2015 2015
dbSNP: rs12733285
rs12733285
4 0.878 0.107 1 202952912 intron variant C/T snp 0.24 0.010 < 0.001 1 2013 2013
dbSNP: rs1342387
rs1342387
4 0.878 0.107 1 202945228 intron variant T/C snp 0.54 0.010 < 0.001 1 2013 2013
dbSNP: rs1410996
rs1410996
CFH
6 0.846 0.107 1 196727803 intron variant G/A snp 0.44 0.010 1.000 1 2015 2015
dbSNP: rs16849113
rs16849113
2 1.000 0.036 1 162071088 intron variant C/T snp 0.18 0.010 1.000 1 2013 2013
dbSNP: rs17106184
rs17106184
3 0.923 0.071 1 50444313 intron variant G/A snp 7.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
49 0.599 0.607 1 11794419 missense variant T/G snp 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
86 0.533 0.714 1 11796321 missense variant G/A snp 0.31 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1963645
rs1963645
2 1.000 0.036 1 162364200 5 prime UTR variant A/G snp 0.32 0.010 1.000 1 2013 2013
dbSNP: rs199976415
rs199976415
2 1.000 0.036 1 26911982 missense variant G/A snp 6.0E-05 6.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs2070150
rs2070150
4 0.878 0.143 1 161791486 missense variant G/C snp 0.14 8.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs2228145
rs2228145
32 0.647 0.500 1 154454494 missense variant A/C,T snp 0.38; 1.2E-05 0.30 0.010 < 0.001 1 2007 2007
dbSNP: rs2228146
rs2228146
3 0.923 0.107 1 154454574 missense variant G/A snp 1.3E-02; 4.0E-06 5.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs2275558
rs2275558
3 0.923 0.143 1 164559883 missense variant G/A snp 0.30 0.20 0.010 1.000 1 2005 2005