Source: ALL
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: rs2211843
rs2211843
1 21 37811882 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2236742
rs2236742
1 14 24575924 intron variant C/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2383515
rs2383515
1 1 186683820 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2756109
rs2756109
1 10 99798989 intron variant G/T snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs2817040
rs2817040
2 6 35737829 intron variant G/A snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs28362731
rs28362731
2 7 30922175 missense variant G/A snv 3.1E-02 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs3212361
rs3212361
1 16 89918814 5 prime UTR variant G/A snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs33985936
rs33985936
2 3 38894643 missense variant C/A;T snv 8.0E-06; 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3750625
rs3750625
2 10 111079843 3 prime UTR variant C/A snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs376128467
rs376128467
2 3 38894920 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3766246
rs3766246
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3845446
rs3845446
3 1 181797301 intron variant T/C snv 6.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs3872309
rs3872309
1 1 16564838 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs398655
rs398655
1 13 33013514 upstream gene variant A/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4369876
rs4369876
1 2 166272746 missense variant C/A snv 3.3E-02 1.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs4512126
rs4512126
1 5 149166179 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4584690
rs4584690
1 13 95027878 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4587017
rs4587017
1 4 69081680 intron variant T/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs4660928
rs4660928
1 1 46420268 TF binding site variant A/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs540825
rs540825
1 6 154093311 missense variant A/C;T snv 2.8E-05; 0.81 0.010 1.000 1 2016 2016
dbSNP: rs5993882
rs5993882
2 22 19950010 intron variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs6473799
rs6473799
2 8 53240563 intron variant A/G snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs677830
rs677830
1 6 154107531 stop gained C/A;G;T snv 6.6E-06; 6.6E-06; 0.19 0.010 1.000 1 2016 2016
dbSNP: rs6827096
rs6827096
1 4 147514294 intron variant C/T snv 0.30 0.010 1.000 1 2020 2020
dbSNP: rs7016778
rs7016778
3 8 53237545 intron variant A/T snv 0.17 0.010 1.000 1 2013 2013