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: rs1023159
rs1023159
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
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: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 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: rs1085308043
rs1085308043
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
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: rs10951154
rs10951154
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.020 0.500 2 2011 2012
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: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
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: rs11787216
rs11787216
2 1.000 0.040 8 141605122 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019