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: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2020 2020
dbSNP: rs1045411
rs1045411
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs12605436
rs12605436
2 0.925 0.080 18 35906684 upstream gene variant C/T snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs13137
rs13137
5 0.827 0.160 17 59841670 3 prime UTR variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs1429638
rs1429638
2 0.925 0.080 4 73872213 downstream gene variant C/A;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs17446614
rs17446614
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs2297630
rs2297630
6 0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2715267
rs2715267
2 0.925 0.080 3 122052011 upstream gene variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2721068
rs2721068
4 0.882 0.160 13 40565575 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2839693
rs2839693
3 0.882 0.120 10 44379119 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs353291
rs353291
6 0.807 0.200 5 149431183 non coding transcript exon variant T/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs41274221
rs41274221
6 0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.020 0.500 2 2018 2019
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.020 1.000 2 2018 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs17036188
rs17036188
3 0.882 0.120 3 12299426 intron variant T/C snv 4.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs2808530
rs2808530
2 0.925 0.080 9 98576823 intron variant A/C snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs2808630
rs2808630
13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2018 2018
dbSNP: rs2972164
rs2972164
3 0.925 0.080 3 12292917 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018