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: rs121917893
rs121917893
10 0.807 0.160 X 71167508 missense variant C/T snv 0.080 1.000 8 2004 2019
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.070 1.000 7 2007 2014
dbSNP: rs1861972
rs1861972
EN2
2 0.925 0.040 7 155461298 intron variant G/A snv 0.72 0.060 1.000 6 2004 2014
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.040 1.000 4 2005 2014
dbSNP: rs2292813
rs2292813
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2008 2017
dbSNP: rs7794745
rs7794745
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 1.000 4 2010 2019
dbSNP: rs167771
rs167771
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.030 1.000 3 2008 2019
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.030 1.000 3 2011 2019
dbSNP: rs3796863
rs3796863
8 0.790 0.160 4 15848363 intron variant G/T snv 0.41 0.030 1.000 3 2010 2012
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.030 1.000 3 2010 2012
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2013 2018
dbSNP: rs1023159
rs1023159
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 2019
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs16835979
rs16835979
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.020 1.000 2 2014 2016
dbSNP: rs237889
rs237889
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.020 1.000 2 2008 2016
dbSNP: rs237897
rs237897
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs397514679
rs397514679
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs4141463
rs4141463
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.020 1.000 2 2011 2019
dbSNP: rs4446909
rs4446909
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs5989681
rs5989681
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2014 2014
dbSNP: rs6782011
rs6782011
7 0.807 0.120 3 7457960 intron variant C/T snv 0.52 0.020 1.000 2 2013 2016
dbSNP: rs6824295
rs6824295
6 0.851 0.120 4 4612553 intron variant C/T snv 0.20 0.020 1.000 2 2014 2016