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: 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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121908117
rs121908117
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1518110
rs1518110
5 0.851 0.160 1 206771516 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1980422
rs1980422
9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1206255976
rs1206255976
4 0.851 0.160 1 22637618 start lost T/G snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs370504038
rs370504038
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs3093061
rs3093061
CRP
4 0.851 0.160 1 159715192 upstream gene variant T/C snv 4.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1270942
rs1270942
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs3131379
rs3131379
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1876453
rs1876453
CR2
4 0.851 0.160 1 207454573 intron variant G/A snv 8.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2070197
rs2070197
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2012 2012
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs3813946
rs3813946
CR2
5 0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16 0.020 1.000 2 2007 2012
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2018 2018