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: rs2236861
rs2236861
3 0.882 0.080 1 28813244 intron variant G/A snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs2240158
rs2240158
2 0.925 0.120 19 1005231 missense variant C/T snv 0.36 0.41 0.010 1.000 1 2016 2016
dbSNP: rs2270162
rs2270162
1 1.000 0.080 7 69596980 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
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: rs2910709
rs2910709
4 0.882 0.120 5 37811762 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2013 2013
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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
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: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2008 2008
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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2015 2015