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: rs1906953
rs1906953
4 0.882 0.040 6 34068669 intron variant C/T snv 0.25 0.820 1.000 3 2013 2016
dbSNP: rs10208273
rs10208273
3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.710 1.000 2 2013 2014
dbSNP: rs1690916
rs1690916
4 0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35 0.020 0.500 2 2014 2016
dbSNP: rs17206779
rs17206779
3 0.882 0.040 5 65151950 splice region variant C/G;T snv 0.48 0.810 1.000 2 2013 2014
dbSNP: rs4148416
rs4148416
3 0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10 0.020 1.000 2 2014 2015
dbSNP: rs4150441
rs4150441
5 0.882 0.040 2 127283339 intron variant T/C snv 0.37 0.020 1.000 2 2016 2017
dbSNP: rs454006
rs454006
3 0.882 0.040 19 53886867 intron variant T/C snv 0.36 0.020 1.000 2 2014 2015
dbSNP: rs7034162
rs7034162
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.720 1.000 2 2015 2019
dbSNP: rs7591996
rs7591996
3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.810 1.000 2 2013 2014
dbSNP: rs780673045
rs780673045
3 0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05 0.020 1.000 2 1999 2004
dbSNP: rs1005464
rs1005464
5 0.882 0.040 20 6775501 intron variant G/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1052667
rs1052667
6 0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1061970
rs1061970
3 0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs11177386
rs11177386
3 0.882 0.040 12 68820362 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs12146774
rs12146774
1 1.000 0.040 12 119235698 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs121913282
rs121913282
4 0.882 0.040 3 179221072 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1223868338
rs1223868338
3 0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1226994105
rs1226994105
5 0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12879262
rs12879262
3 0.882 0.040 14 102539710 non coding transcript exon variant G/C snv 0.12 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1295925
rs1295925
3 0.882 0.040 17 59832902 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs1332788424
rs1332788424
2 1.000 0.040 6 33009477 synonymous variant C/A;T snv 4.3E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs16948627
rs16948627
4 0.882 0.040 17 50063432 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs17111750
rs17111750
3 0.882 0.040 14 20442249 downstream gene variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs199812774
rs199812774
3 0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879
3 0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04 0.010 1.000 1 2013 2013