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: rs2058660
rs2058660
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs663743
rs663743
5 0.827 0.120 11 64340263 5 prime UTR variant G/A snv 0.33 0.25 0.700 1.000 1 2015 2015
dbSNP: rs72715458
rs72715458
1 1.000 0.040 4 180303682 intergenic variant G/A snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs7281762
rs7281762
1 1.000 0.040 21 33297267 intron variant G/A snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs744751
rs744751
1 1.000 0.040 3 30694445 upstream gene variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs9271348
rs9271348
2 0.925 0.160 6 32615965 regulatory region variant G/A snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs9271366
rs9271366
9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.700 1.000 1 2009 2009
dbSNP: rs2270368
rs2270368
2 0.925 0.080 16 50680424 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2524132
rs2524132
1 1.000 0.040 6 31297135 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1937
rs1937
3 0.882 0.120 10 58385582 missense variant G/C snv 9.6E-02 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1049432
rs1049432
2 0.925 0.040 10 58395360 3 prime UTR variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7851696
rs7851696
5 0.827 0.320 9 134887245 missense variant G/C;T snv 0.12 0.14 0.010 1.000 1 2013 2013
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: rs2275848
rs2275848
2 0.925 0.120 9 93125038 missense variant G/T snv 0.81 0.77 0.010 < 0.001 1 2007 2007
dbSNP: rs4494157
rs4494157
1 1.000 0.040 1 27370346 intron variant G/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.020 0.500 2 2012 2014
dbSNP: rs10114470
rs10114470
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1071630
rs1071630
4 0.851 0.120 6 32641349 missense variant T/A;C snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs1333955
rs1333955
4 0.851 0.080 6 162792422 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs4720118
rs4720118
1 1.000 0.040 7 33429629 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs9271100
rs9271100
2 0.925 0.120 6 32608701 regulatory region variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2024825
rs2024825
1 1.000 0.040 1 67132294 intron variant T/A;C;G snv 0.700 1.000 1 2015 2015