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: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.030 1.000 3 2010 2014
dbSNP: rs1143679
rs1143679
11 0.756 0.393 16 31265490 missense variant G/A snp 9.7E-02 0.11 0.020 1.000 2 2013 2015
dbSNP: rs3813946
rs3813946
CR2
4 0.846 0.143 1 207454348 5 prime UTR variant T/C snp 0.15 0.020 1.000 2 2007 2012
dbSNP: rs1048971
rs1048971
CR2
4 0.846 0.143 1 207472977 stop gained G/A,T snp 0.34; 8.0E-06 0.42 0.010 1.000 1 2007 2007
dbSNP: rs121908117
rs121908117
9 0.784 0.250 3 48466707 missense variant G/A snp 0.010 1.000 1 2015 2015
dbSNP: rs1270942
rs1270942
CFB
11 0.744 0.357 6 31951083 non coding transcript exon variant A/G snp 8.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs13023380
rs13023380
4 0.846 0.143 2 162297853 intron variant G/A snp 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1341239
rs1341239
PRL
5 0.821 0.179 6 22303975 intron variant A/C snp 0.65 0.010 1.000 1 2016 2016
dbSNP: rs17615
rs17615
CR2
4 0.846 0.143 1 207473117 missense variant G/A snp 0.26 0.30 0.010 1.000 1 2007 2007
dbSNP: rs1876453
rs1876453
CR2
4 0.846 0.143 1 207454573 intron variant G/A snp 8.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2070197
rs2070197
5 0.821 0.250 7 128948946 3 prime UTR variant T/C snp 9.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs2275913
rs2275913
40 0.599 0.536 6 52186235 intergenic variant G/A snp 0.30 0.010 1.000 1 2016 2016
dbSNP: rs2397084
rs2397084
8 0.769 0.321 6 52237046 missense variant T/C snp 6.7E-02 6.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs3131379
rs3131379
10 0.756 0.357 6 31753256 intron variant G/A snp 6.4E-02 8.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs72556554
rs72556554
9 0.784 0.214 3 48466996 missense variant G/A,C snp 2.1E-04; 2.7E-04 2.9E-04 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
36 0.618 0.571 2 191099907 intron variant T/G snp 0.79 0.010 1.000 1 2007 2007
dbSNP: rs763780
rs763780
38 0.605 0.607 6 52236941 missense variant T/C snp 6.7E-02 7.1E-02 0.010 1.000 1 2016 2016