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: rs56013859
rs56013859
2 0.925 0.080 2 238276865 intron variant T/C snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.060 1.000 6 2013 2018
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11941860
rs11941860
2 1.000 0.080 4 46080161 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs141973904
rs141973904
1 1.000 0.080 4 99341085 intron variant C/T snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2119183
rs2119183
2 1.000 0.080 4 46270789 intron variant G/A snv 7.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2412646
rs2412646
3 0.882 0.120 4 55452605 3 prime UTR variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2017 2017
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs356200
rs356200
4 0.882 0.160 4 89747463 intron variant T/C snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs3756007
rs3756007
2 1.000 0.080 4 46389047 5 prime UTR variant T/C snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs536599
rs536599
2 1.000 0.080 4 46196917 intergenic variant G/T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs10044881
rs10044881
1 1.000 0.080 5 148645656 non coding transcript exon variant T/C snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs17777298
rs17777298
1 1.000 0.080 5 148541962 intron variant T/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs3811939
rs3811939
2 1.000 0.080 5 76954762 intron variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs4532
rs4532
7 0.827 0.160 5 175443147 5 prime UTR variant C/T snv 0.68 0.72 0.010 1.000 1 2019 2019
dbSNP: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.010 < 0.001 1 2009 2009
dbSNP: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.070 0.857 7 2010 2018