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: rs7521902
rs7521902
4 1.000 0.040 1 22164231 intergenic variant C/A snv 0.22 0.850 1.000 7 2012 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.833 6 2007 2016
dbSNP: rs16826658
rs16826658
1 1.000 0.040 1 22159378 downstream gene variant T/G snv 0.32 0.750 1.000 6 2010 2020
dbSNP: rs10859871
rs10859871
2 1.000 0.040 12 95318100 intron variant A/C snv 0.37 0.850 1.000 5 2012 2017
dbSNP: rs12700667
rs12700667
2 0.925 0.080 7 25862019 intergenic variant G/A snv 0.63 0.820 1.000 5 2011 2017
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1996 2006
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 0.600 5 2003 2016
dbSNP: rs605059
rs605059
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.050 0.800 5 2005 2017
dbSNP: rs13394619
rs13394619
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.040 0.500 4 2003 2016
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.040 0.750 4 2008 2020
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.040 1.000 4 2011 2018
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.030 0.667 3 2011 2016
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2009 2017
dbSNP: rs1250248
rs1250248
FN1
4 1.000 0.040 2 215422370 intron variant A/G snv 0.77 0.030 1.000 3 2013 2019
dbSNP: rs1304037
rs1304037
3 0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32 0.030 1.000 3 2013 2020
dbSNP: rs1537377
rs1537377
1 1.000 0.040 9 22169701 regulatory region variant T/C snv 0.44 0.810 1.000 3 2012 2017
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.030 1.000 3 2013 2015
dbSNP: rs2235529
rs2235529
3 1.000 0.040 1 22123994 intron variant C/T snv 0.13 0.820 1.000 3 2013 2020
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2007 2017
dbSNP: rs2856836
rs2856836
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.030 1.000 3 2013 2020
dbSNP: rs3820282
rs3820282
2 0.925 0.120 1 22141722 intron variant C/T snv 0.13 0.030 1.000 3 2015 2019
dbSNP: rs4141819
rs4141819
2 1.000 0.040 2 67637543 intron variant C/T snv 0.71 0.820 1.000 3 2012 2015
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 1.000 3 2012 2018