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: rs10274701
rs10274701
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1064793184
rs1064793184
4 0.851 0.080 2 47791055 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1064793309
rs1064793309
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs10771399
rs10771399
5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs1114167795
rs1114167795
4 0.851 0.080 2 47799482 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1235679626
rs1235679626
3 0.925 0.080 22 30940834 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs12662670
rs12662670
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs13000023
rs13000023
4 0.851 0.080 2 217059671 downstream gene variant G/A;C;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs142030651
rs142030651
4 0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs1436904
rs1436904
4 0.851 0.080 18 26990703 intron variant T/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs148047459
rs148047459
2 0.925 0.080 1 20501166 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1485579458
rs1485579458
4 0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1651654
rs1651654
2 0.925 0.080 16 46822677 intron variant T/C snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs1726801
rs1726801
4 0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14 0.010 1.000 1 2014 2014
dbSNP: rs184967
rs184967
2 0.925 0.080 5 80854162 missense variant A/G;T snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs2077197
rs2077197
2 0.925 0.080 1 226408338 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2278256
rs2278256
2 0.925 0.080 19 17267350 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2491231
rs2491231
2 0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61 0.010 1.000 1 2019 2019
dbSNP: rs373587423
rs373587423
4 0.851 0.080 16 13935425 missense variant T/C snv 3.6E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3865014
rs3865014
8 0.851 0.080 15 69269179 missense variant G/A snv 0.75 0.69 0.010 1.000 1 2017 2017
dbSNP: rs4415084
rs4415084
6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs473543
rs473543
2 0.925 0.080 6 106327811 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4849887
rs4849887
7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4986850
rs4986850
4 0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs527616
rs527616
4 0.851 0.080 18 26757460 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017