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: rs104895462
rs104895462
3 0.882 0.120 16 50710911 missense variant C/T snv 0.010 1.000 1 2007 2007
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: rs104895460
rs104895460
2 0.925 0.080 16 50711316 missense variant C/T snv 0.010 1.000 1 2009 2009
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: 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
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: 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: rs1805110
rs1805110
3 0.882 0.200 1 91861488 missense variant G/A snv 0.13 0.13 0.010 1.000 1 2012 2012
dbSNP: rs2489188
rs2489188
2 0.925 0.200 1 91866932 intron variant C/T snv 0.65 0.010 1.000 1 2012 2012
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: 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: rs17375018
rs17375018
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.020 1.000 2 2013 2017
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: 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: 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: 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: 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: 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