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: rs1005510
rs1005510
1 1.000 0.040 11 57599749 intron variant C/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs10272438
rs10272438
1 1.000 0.040 7 33199222 intron variant A/G snv 0.19 0.010 < 0.001 1 2007 2007
dbSNP: rs1033920857
rs1033920857
3 0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs10411506
rs10411506
C3
2 0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1042229
rs1042229
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1048118
rs1048118
CFP
1 1.000 0.040 X 47624401 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs10483810
rs10483810
1 1.000 0.040 14 68526257 intron variant G/T snv 6.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs1048661
rs1048661
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011
dbSNP: rs1051308
rs1051308
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2005 2005
dbSNP: rs10521496
rs10521496
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs1055821
rs1055821
1 1.000 0.040 6 31354142 3 prime UTR variant G/T snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1060501343
rs1060501343
1 1.000 0.040 1 45340221 splice donor variant A/G snv 0.010 1.000 1 2012 2012
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: rs1063355
rs1063355
5 0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1064039
rs1064039
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1064583
rs1064583
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019
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 2015 2015
dbSNP: rs10753929
rs10753929
1 1.000 0.040 1 202954050 intron variant T/C snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs10895322
rs10895322
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs112000638
rs112000638
2 0.925 0.160 11 131359434 intergenic variant T/C snv 8.7E-03 0.010 1.000 1 2014 2014
dbSNP: rs1120638
rs1120638
1 1.000 0.040 Y 3649707 intergenic variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1130459
rs1130459
1 1.000 0.040 3 133746439 5 prime UTR variant A/G snv 0.60 0.58 0.010 1.000 1 2013 2013