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: rs10008257
rs10008257
2 0.925 0.040 4 94435177 intergenic variant G/A snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs10034164
rs10034164
1 1.000 0.040 4 52593565 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs10042486
rs10042486
4 0.882 0.040 5 63965502 intron variant C/T snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs10061623
rs10061623
1 1.000 0.040 5 135445391 3 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs10223646
rs10223646
DSE
4 0.882 0.080 6 116296236 intron variant C/T snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs10457592
rs10457592
1 1.000 0.040 6 99104094 intergenic variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10462028
rs10462028
4 0.882 0.120 4 55432133 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs1048220
rs1048220
1 1.000 0.040 11 27658191 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10494251
rs10494251
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs10494994
rs10494994
1 1.000 0.040 1 215188864 intron variant G/A snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2016 2016
dbSNP: rs10736648
rs10736648
1 1.000 0.040 11 105772210 intron variant A/G snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10835210
rs10835210
4 0.882 0.040 11 27674363 intron variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs10877887
rs10877887
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs10914456
rs10914456
2 1.000 0.040 1 31622570 intron variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10922744
rs10922744
1 1.000 0.040 1 90027467 synonymous variant G/A snv 0.61; 1.2E-05 0.57 0.010 1.000 1 2012 2012
dbSNP: rs10936599
rs10936599
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.010 1.000 1 2017 2017
dbSNP: rs10994143
rs10994143
1 1.000 0.040 10 60021320 downstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs11218016
rs11218016
1 1.000 0.040 11 120824045 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2010 2010
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2009 2009