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: rs121917954
rs121917954
2 0.925 0.080 2 166002699 missense variant C/A;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121918625
rs121918625
2 0.925 0.040 2 166036521 missense variant G/A snv 0.010 1.000 1 2003 2003
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: rs773474610
rs773474610
2 0.925 0.040 2 62222596 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs781204054
rs781204054
2 0.925 0.040 2 165312036 missense variant T/G snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015
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: 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: rs121917921
rs121917921
3 0.882 0.040 2 165991927 missense variant G/A snv 0.010 1.000 1 2019 2019
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: rs398123593
rs398123593
3 0.882 0.040 2 166002537 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs727504136
rs727504136
3 0.882 0.040 2 166012255 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs766910280
rs766910280
3 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs794726752
rs794726752
3 0.882 0.040 2 165996021 stop gained G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs796052839
rs796052839
3 0.882 0.200 X 100407579 missense variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs931949929
rs931949929
3 0.882 0.040 19 35033607 missense variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121917918
rs121917918
4 0.851 0.040 2 166058651 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121917935
rs121917935
4 0.851 0.040 2 166054660 missense variant C/A;T snv 0.010 1.000 1 2010 2010
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: rs121918803
rs121918803
4 0.851 0.040 2 166009745 missense variant C/G snv 0.010 1.000 1 2017 2017