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: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs2358820
rs2358820
1 1.000 0.040 1 117169289 intron variant G/A snv 5.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs4505848
rs4505848
8 0.776 0.400 4 122211337 intron variant A/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs10893872
rs10893872
4 0.882 0.120 11 128455658 downstream gene variant T/C snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs1128334
rs1128334
5 0.851 0.160 11 128459064 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2013 2013
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2222202
rs2222202
5 0.827 0.160 1 206772036 intron variant G/A snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs6703630
rs6703630
2 0.925 0.120 1 206775294 intron variant C/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12569232
rs12569232
4 0.882 0.280 1 211379722 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7519847
rs7519847
1 1.000 0.040 1 22003194 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs7421861
rs7421861
9 0.790 0.200 2 241853198 intron variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs7565639
rs7565639
3 0.882 0.160 2 241854911 intron variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs6710479
rs6710479
3 0.882 0.200 2 241855866 intron variant T/C snv 0.51 0.010 1.000 1 2020 2020
dbSNP: rs4788084
rs4788084
6 0.827 0.200 16 28528527 downstream gene variant C/T snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs2075800
rs2075800
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.010 1.000 1 2007 2007
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2016 2016
dbSNP: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 < 0.001 1 2011 2011
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs6841698
rs6841698
4 0.882 0.080 4 38760093 upstream gene variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs377679652
rs377679652
2 0.925 0.040 7 50669861 missense variant C/T snv 4.6E-05 2.8E-05 0.010 1.000 1 2015 2015