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: rs10127175
rs10127175
1 1.000 0.080 X 154018721 missense variant A/T snv 5.1E-03 1.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs103294
rs103294
7 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1048801
rs1048801
1 1.000 0.080 19 54667913 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs104895257
rs104895257
1 1.000 0.080 12 6333441 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1048971
rs1048971
CR2
4 0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10491322
rs10491322
3 0.925 0.120 5 134194449 3 prime UTR variant A/G snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs10496105
rs10496105
1 1.000 0.080 2 64093612 3 prime UTR variant G/A snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1050499
rs1050499
1 1.000 0.080 1 161673197 missense variant A/T snv 2.4E-03 4.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs1051169
rs1051169
5 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs10515746
rs10515746
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1051792
rs1051792
5 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2011 2011
dbSNP: rs1052231
rs1052231
1 1.000 0.080 1 167430837 3 prime UTR variant T/A snv 0.82 0.010 1.000 1 2009 2009
dbSNP: rs1057108
rs1057108
1 1.000 0.080 10 35196021 5 prime UTR variant T/G snv 0.34 0.34 0.010 1.000 1 2015 2015
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 2011 2011
dbSNP: rs1061501
rs1061501
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2011 2011
dbSNP: rs1063320
rs1063320
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1065852
rs1065852
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2016 2016
dbSNP: rs10750836
rs10750836
1 1.000 0.080 11 69048055 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10761670
rs10761670
1 1.000 0.080 10 62852354 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs10798801
rs10798801
1 1.000 0.080 1 30760633 upstream gene variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs10840759
rs10840759
3 0.882 0.200 12 8138610 intron variant C/T snv 0.28 0.010 < 0.001 1 2015 2015