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: rs10759932
rs10759932
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12435483
rs12435483
2 1.000 0.080 14 102865271 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs16970849
rs16970849
4 0.882 0.080 17 78137827 intron variant G/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1966265
rs1966265
8 0.827 0.160 5 177089630 missense variant G/A;T snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2011077
rs2011077
8 0.807 0.080 5 177094455 intron variant C/T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs2290907
rs2290907
4 0.882 0.080 17 78097596 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs281432
rs281432
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs3093030
rs3093030
6 0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs311678
rs311678
2 1.000 0.040 6 73425293 synonymous variant C/T snv 0.71 0.72 0.010 1.000 1 2016 2016
dbSNP: rs3742330
rs3742330
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs6052130
rs6052130
2 1.000 0.040 20 3863021 intron variant C/A snv 9.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs7708357
rs7708357
2 1.000 0.080 5 177104771 intergenic variant A/G snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs78303930
rs78303930
NES
4 0.925 0.120 1 156670593 missense variant C/A;G snv 4.0E-06; 2.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs784567
rs784567
5 0.851 0.320 12 53500681 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2019 2019