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: 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: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.010 1.000 1 2017 2017
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: rs61860052
rs61860052
2 0.925 0.080 10 80201955 intron variant C/A snv 6.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs397514601
rs397514601
3 0.882 0.040 11 77115423 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7519847
rs7519847
1 1.000 0.040 1 22003194 intron variant C/G;T snv 0.010 1.000 1 2017 2017
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: 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: rs703842
rs703842
4 0.851 0.240 12 57768956 missense variant A/G snv 0.38 0.33 0.010 1.000 1 2013 2013
dbSNP: rs2287987
rs2287987
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.010 1.000 1 2018 2018
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: rs4752
rs4752
GC
1 1.000 0.040 4 71756849 synonymous variant A/G snv 3.8E-02 8.6E-02 0.010 1.000 1 2011 2011
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
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: 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: rs2222202
rs2222202
5 0.827 0.160 1 206772036 intron variant G/A snv 0.39 0.010 1.000 1 2010 2010
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: rs6703630
rs6703630
2 0.925 0.120 1 206775294 intron variant C/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs17375018
rs17375018
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.020 1.000 2 2013 2017
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 < 0.001 1 2017 2017
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: rs12722489
rs12722489
3 0.882 0.160 10 6060049 intron variant C/T snv 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2011 2011