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: rs10230087
rs10230087
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1026306398
rs1026306398
EN2
1 1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1033810883
rs1033810883
1 1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10418707
rs10418707
1 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10423341
rs10423341
1 1.000 0.040 19 10156590 intron variant C/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1049346
rs1049346
3 0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54 0.010 1.000 1 2015 2015
dbSNP: rs10497655
rs10497655
2 1.000 0.040 2 184597314 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10498676
rs10498676
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1060826
rs1060826
4 0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67 0.010 1.000 1 2009 2009
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs11155819
rs11155819
1 1.000 0.040 6 151878224 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11236697
rs11236697
1 1.000 0.040 11 70576391 intron variant T/C snv 4.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1131692040
rs1131692040
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1152582
rs1152582
1 1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1163276899
rs1163276899
2 1.000 0.040 3 53673125 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs11639084
rs11639084
4 0.851 0.200 15 60774317 intron variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs11795613
rs11795613
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1186689
rs1186689
1 1.000 0.040 1 160053263 intron variant G/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs12037377
rs12037377
2 1.000 0.040 1 246551218 missense variant G/A snv 3.2E-03 1.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs121908445
rs121908445
2 0.925 0.040 7 148147542 missense variant T/C snv 3.3E-04 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs121918799
rs121918799
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013