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: rs2133896
rs2133896
5 0.925 0.080 12 99455122 intron variant G/T snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2236861
rs2236861
3 0.882 0.080 1 28813244 intron variant G/A snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs2270162
rs2270162
1 1.000 0.080 7 69596980 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2288156
rs2288156
1 1.000 0.080 17 8741536 missense variant C/A;T snv 4.0E-06; 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs2292592
rs2292592
1 1.000 0.080 17 65208091 intron variant A/G snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs2292593
rs2292593
1 1.000 0.080 17 65201802 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs255105
rs255105
1 1.000 0.080 7 30692491 intron variant T/C snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs265981
rs265981
3 0.925 0.080 5 175443899 5 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs274618
rs274618
1 1.000 0.080 7 86642700 upstream gene variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs274622
rs274622
2 0.925 0.080 7 86643624 upstream gene variant C/T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2018 2018
dbSNP: rs2869577
rs2869577
1 1.000 0.080 17 65199474 intron variant C/G snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs3104703
rs3104703
1 1.000 0.080 16 9971279 intron variant T/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs3219790
rs3219790
1 1.000 0.080 16 10183568 upstream gene variant CACACACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACACA delins 0.010 1.000 1 2013 2013
dbSNP: rs363332
rs363332
1 1.000 0.080 10 117243156 intron variant G/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs363334
rs363334
1 1.000 0.080 10 117245484 intron variant C/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs363338
rs363338
1 1.000 0.080 10 117249878 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs3823010
rs3823010
1 1.000 0.080 6 154058017 intron variant G/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs3915568
rs3915568
2 0.925 0.080 20 62738120 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs4492854
rs4492854
1 1.000 0.080 11 113112812 intron variant C/T snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs4648319
rs4648319
1 1.000 0.080 11 113443641 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4791230
rs4791230
2 0.925 0.080 17 65136210 intron variant C/T snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs4791746
rs4791746
1 1.000 0.080 17 8723039 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs510769
rs510769
2 1.000 0.080 6 154040884 intron variant C/T snv 0.25 0.010 1.000 1 2008 2008
dbSNP: rs5376
rs5376
1 1.000 0.080 18 77268853 missense variant G/A snv 0.98 0.91 0.010 1.000 1 2014 2014