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: rs908832
rs908832
4 0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96 0.010 < 0.001 1 2006 2006
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.030 1.000 3 2010 2016
dbSNP: rs505151
rs505151
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.040 0.750 4 2005 2015
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2020 2020
dbSNP: rs2288904
rs2288904
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.010 1.000 1 2016 2016
dbSNP: rs10767664
rs10767664
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.020 1.000 2 2013 2018
dbSNP: rs2227564
rs2227564
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 2014 2014
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2017 2017
dbSNP: rs428785
rs428785
3 0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78 0.010 1.000 1 2008 2008
dbSNP: rs2016520
rs2016520
16 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs180070
rs180070
4 0.882 0.040 17 69960745 upstream gene variant G/T snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs383830
rs383830
3 0.882 0.040 5 100613278 intergenic variant A/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
dbSNP: rs3931020
rs3931020
4 0.882 0.040 1 74769633 downstream gene variant T/C snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 1.000 3 2015 2017
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2018 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs7195830
rs7195830
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.030 1.000 3 2010 2018
dbSNP: rs780093
rs780093
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs5082
rs5082
8 0.807 0.160 1 161223893 upstream gene variant G/A snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs565470
rs565470
3 0.882 0.040 13 110186299 intron variant A/G snv 0.68 0.010 1.000 1 2018 2018