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: rs1414334
rs1414334
5 0.851 0.160 X 114903581 intron variant C/G snv 0.010 1.000 1 2010 2010
dbSNP: rs141441277
rs141441277
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs2279357
rs2279357
5 0.851 0.160 15 74338282 intron variant T/C snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs779545541
rs779545541
5 0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2168351
rs2168351
6 0.851 0.120 15 92440492 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs3784730
rs3784730
6 0.851 0.120 15 92443898 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs301430
rs301430
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.010 1.000 1 2010 2010
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs397514679
rs397514679
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs121917893
rs121917893
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2004 2004
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 2013 2013
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs12826786
rs12826786
26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2009 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019