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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 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: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.833 6 2007 2016
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: 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: 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: rs2235529
rs2235529
3 1.000 0.040 1 22123994 intron variant C/T snv 0.13 0.820 1.000 3 2013 2020
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: rs10965235
rs10965235
1 1.000 0.040 9 22115106 intron variant C/A snv 0.15 0.820 1.000 2 2010 2014
dbSNP: rs11674184
rs11674184
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2004 2010
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.020 1.000 2 2011 2012
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.020 0.500 2 2012 2019
dbSNP: rs6542095
rs6542095
1 1.000 0.040 2 112771606 downstream gene variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs6907340
rs6907340
1 1.000 0.040 6 19803537 non coding transcript exon variant C/T snv 0.47 0.800 1.000 2 2012 2013
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2020
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2012 2013
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.020 1.000 2 2016 2019