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: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs11057864
rs11057864
2 0.925 0.160 12 124851404 intron variant C/A snv 6.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1108131
rs1108131
2 0.925 0.160 10 12455748 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs114580964
rs114580964
1 1.000 0.160 6 31636736 missense variant C/A;T snv 3.4E-03 1.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs11893826
rs11893826
2 0.925 0.160 2 40337507 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1364989
rs1364989
2 0.925 0.160 4 54145602 intron variant T/C snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs1635564
rs1635564
2 0.925 0.160 1 17357031 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs17008504
rs17008504
1 1.000 0.160 4 124718662 intergenic variant T/A snv 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs2157257
rs2157257
1 1.000 0.160 22 36312293 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2246614
rs2246614
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2011 2011
dbSNP: rs2271100
rs2271100
AGA
1 1.000 0.160 4 177438525 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2295415
rs2295415
3 0.882 0.160 10 35212510 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs274068
rs274068
2 0.925 0.160 16 24887651 intron variant C/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs3792192
rs3792192
2 0.925 0.160 2 160030364 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs434082
rs434082
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs4664308
rs4664308
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs4984
rs4984
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2015 2015
dbSNP: rs601162
rs601162
2 0.925 0.160 9 29632144 upstream gene variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6056923
rs6056923
1 1.000 0.160 20 9840271 intron variant T/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs6697139
rs6697139
2 0.925 0.160 1 161690906 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7692514
rs7692514
2 0.925 0.160 4 65276878 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs7773456
rs7773456
2 0.925 0.160 6 19823007 intron variant T/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs7834765
rs7834765
2 0.925 0.160 8 121263666 regulatory region variant G/T snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs8012283
rs8012283
NIN
2 0.925 0.160 14 50767442 intron variant A/G snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs8091180
rs8091180
3 1.000 0.160 18 79404243 intron variant G/A snv 0.46 0.010 1.000 1 2018 2018