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: rs794726759
rs794726759
3 0.882 0.040 2 165992342 stop gained G/A snv 0.030 1.000 3 2009 2018
dbSNP: rs1135401736
rs1135401736
3 0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06 0.020 1.000 2 2009 2012
dbSNP: rs121917984
rs121917984
8 0.790 0.080 2 166052869 missense variant G/A;C snv 0.020 1.000 2 2019 2020
dbSNP: rs121918775
rs121918775
5 0.827 0.080 2 166037886 missense variant G/A;T snv 0.020 1.000 2 2004 2011
dbSNP: rs121918811
rs121918811
3 0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06 0.020 1.000 2 2013 2018
dbSNP: rs121909674
rs121909674
8 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121917918
rs121917918
4 0.851 0.040 2 166058651 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121917921
rs121917921
3 0.882 0.040 2 165991927 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121917935
rs121917935
4 0.851 0.040 2 166054660 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs121917954
rs121917954
2 0.925 0.080 2 166002699 missense variant C/A;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121917971
rs121917971
4 0.851 0.080 2 166037885 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121917993
rs121917993
4 0.851 0.040 2 165994212 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121918622
rs121918622
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121918624
rs121918624
5 0.827 0.080 2 166052882 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs121918625
rs121918625
2 0.925 0.040 2 166036521 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121918744
rs121918744
3 0.882 0.080 2 165992221 missense variant G/A;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121918791
rs121918791
3 0.882 0.080 2 165992333 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs121918792
rs121918792
3 0.882 0.040 2 165992255 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121918793
rs121918793
3 0.882 0.040 2 165991549 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121918799
rs121918799
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs121918803
rs121918803
4 0.851 0.040 2 166009745 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121918809
rs121918809
2 0.925 0.040 2 165992009 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1490209867
rs1490209867
2 0.925 0.040 2 165992377 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs398123588
rs398123588
5 0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs398123593
rs398123593
3 0.882 0.040 2 166002537 stop gained G/A snv 0.010 1.000 1 2013 2013