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: rs7574865
rs7574865
36 0.618 0.571 2 191099907 intron variant T/G snp 0.79 0.900 1.000 27 2007 2016
dbSNP: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.900 0.955 26 2004 2018
dbSNP: rs1143679
rs1143679
11 0.756 0.393 16 31265490 missense variant G/A snp 9.7E-02 0.11 0.900 1.000 18 2009 2017
dbSNP: rs2230926
rs2230926
11 0.756 0.286 6 137874929 missense variant T/C,G snp 4.0E-06; 5.4E-02 0.12 0.880 0.750 12 2009 2017
dbSNP: rs2205960
rs2205960
4 0.846 0.143 1 173222336 intergenic variant G/A,T snp 0.18 0.860 1.000 9 2009 2014
dbSNP: rs10516487
rs10516487
6 0.801 0.179 4 101829919 missense variant G/A,T snp 0.26; 8.0E-06 0.27 0.860 1.000 7 2008 2016
dbSNP: rs13277113
rs13277113
9 0.756 0.286 8 11491677 intron variant G/A snp 0.25 0.850 1.000 9 2008 2013
dbSNP: rs10036748
rs10036748
3 0.878 0.107 5 151078585 intron variant C/A,T snp 0.43 0.830 1.000 5 2009 2016
dbSNP: rs4917014
rs4917014
4 0.878 0.143 7 50266267 regulatory region variant T/G snp 0.26 0.830 1.000 5 2009 2016
dbSNP: rs4963128
rs4963128
3 0.878 0.107 11 589564 intron variant T/C snp 0.63 0.830 1.000 5 2008 2013
dbSNP: rs6445975
rs6445975
PXK
2 0.923 0.107 3 58384450 intron variant G/T snp 0.63 0.830 0.667 4 2008 2013
dbSNP: rs5029939
rs5029939
10 0.756 0.321 6 137874586 intron variant C/G snp 0.12 0.830 1.000 3 2009 2013
dbSNP: rs2736340
rs2736340
11 0.756 0.286 8 11486464 regulatory region variant C/T snp 0.25 0.820 1.000 8 2009 2017
dbSNP: rs10488631
rs10488631
9 0.769 0.179 7 128954129 intergenic variant T/C snp 9.6E-02 0.820 1.000 6 2008 2016
dbSNP: rs729302
rs729302
4 0.846 0.143 7 128928906 intergenic variant A/C snp 0.28 0.820 1.000 6 2008 2013
dbSNP: rs6590330
rs6590330
1 1.000 0.071 11 128441164 intergenic variant G/A,T snp 0.16 0.820 1.000 4 2009 2015
dbSNP: rs9271366
rs9271366
8 0.801 0.214 6 32619077 intergenic variant G/A snp 0.820 1.000 4 2009 2016
dbSNP: rs11574637
rs11574637
2 0.923 0.143 16 31357553 missense variant T/C snp 0.20 0.820 1.000 2 2008 2011
dbSNP: rs340630
rs340630
1 1.000 0.071 4 87037243 intron variant G/A snp 0.43 0.820 1.000 2 2012 2013
dbSNP: rs9888739
rs9888739
1 1.000 0.071 16 31301932 intron variant C/T snp 0.24 0.810 1.000 5 2008 2015
dbSNP: rs1270942
rs1270942
CFB
11 0.744 0.357 6 31951083 non coding transcript exon variant A/G snp 8.2E-02 0.810 1.000 4 2008 2016
dbSNP: rs1801274
rs1801274
21 0.679 0.429 1 161509955 missense variant A/C,G snp 4.0E-06; 0.48 0.51 0.810 1.000 4 2008 2017
dbSNP: rs3131379
rs3131379
10 0.756 0.357 6 31753256 intron variant G/A snp 6.4E-02 8.6E-02 0.810 1.000 4 2008 2016
dbSNP: rs1128334
rs1128334
2 0.923 0.107 11 128459064 3 prime UTR variant C/T snp 0.12 0.810 1.000 3 2010 2017
dbSNP: rs2431697
rs2431697
7 0.784 0.179 5 160452971 intron variant T/C snp 0.42 0.810 1.000 3 2008 2016