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: rs1555185217
rs1555185217
1 1.000 0.120 12 49024578 missense variant C/T snv 0.800 1.000 9 2010 2014
dbSNP: rs200088180
rs200088180
1 1.000 0.120 12 49051743 missense variant G/A;C;T snv 1.2E-05; 4.6E-04 0.800 1.000 9 2010 2014
dbSNP: rs267607237
rs267607237
1 1.000 0.120 12 49026430 missense variant C/T snv 0.800 1.000 9 2010 2014
dbSNP: rs398123724
rs398123724
1 1.000 0.120 12 49026824 missense variant G/A snv 0.800 1.000 6 2009 2016
dbSNP: rs886043497
rs886043497
1 1.000 0.120 12 49026505 missense variant C/T snv 0.800 1.000 5 2011 2017
dbSNP: rs1388523736
rs1388523736
1 1.000 0.120 12 49022122 missense variant C/T snv 4.0E-06 0.700 1.000 9 2010 2014
dbSNP: rs1555185701
rs1555185701
1 1.000 0.120 12 49026401 missense variant C/T snv 0.700 1.000 9 2010 2014
dbSNP: rs1555185875
rs1555185875
1 1.000 0.120 12 49026878 missense variant G/A snv 0.700 1.000 9 2010 2014
dbSNP: rs267607238
rs267607238
1 1.000 0.120 12 49022301 missense variant G/A snv 0.700 1.000 9 2010 2014
dbSNP: rs763347763
rs763347763
1 1.000 0.120 12 49038835 missense variant G/C;T snv 6.1E-06; 6.1E-06 0.700 1.000 9 2010 2014
dbSNP: rs776242478
rs776242478
1 1.000 0.120 12 49052055 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 9 2010 2014
dbSNP: rs778418522
rs778418522
1 1.000 0.120 12 49031647 missense variant G/A snv 3.9E-05 4.9E-05 0.700 1.000 9 2010 2014
dbSNP: rs398123721
rs398123721
1 1.000 0.120 12 49027256 stop gained G/A;C snv 5.2E-06 0.700 1.000 4 2010 2016
dbSNP: rs587783685
rs587783685
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 4 2013 2017
dbSNP: rs398123744
rs398123744
1 1.000 0.120 12 49048065 frameshift variant AT/- del 0.700 1.000 3 2014 2016
dbSNP: rs1422752351
rs1422752351
1 1.000 0.120 12 49022350 stop gained G/A snv 0.700 1.000 2 2011 2016
dbSNP: rs398123753
rs398123753
1 1.000 0.120 12 49041175 frameshift variant A/- del 0.700 1.000 2 2015 2017
dbSNP: rs1057516039
rs1057516039
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518571
rs1057518571
1 1.000 0.120 12 49040359 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519595
rs1057519595
1 1.000 0.120 12 49050594 frameshift variant A/- del 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1555044700
rs1555044700
1 1.000 0.120 11 118498369 splice acceptor variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1555184777
rs1555184777
1 1.000 0.120 12 49022588 splice donor variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1555185301
rs1555185301
1 1.000 0.120 12 49024810 frameshift variant -/A ins 0.700 1.000 1 2017 2017
dbSNP: rs1555186232
rs1555186232
1 1.000 0.120 12 49028008 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1555187577
rs1555187577
1 1.000 0.120 12 49031497 frameshift variant TT/- del 0.700 1.000 1 2017 2017