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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2006 2014
dbSNP: rs28360317
rs28360317
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 < 0.001 1 2009 2009
dbSNP: rs11453459
rs11453459
3 0.882 0.080 19 52189696 upstream gene variant -/G delins 0.010 1.000 1 2013 2013
dbSNP: rs1205454520
rs1205454520
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2016 2016
dbSNP: rs10680577
rs10680577
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2019 2019
dbSNP: rs735482
rs735482
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.040 1.000 4 2011 2016
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2007 2016
dbSNP: rs1043973338
rs1043973338
3 0.882 0.080 2 112830483 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729
6 0.827 0.080 15 66435113 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1105879
rs1105879
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
dbSNP: rs11137037
rs11137037
4 0.851 0.200 8 6538661 intron variant A/C snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs116260619
rs116260619
1 1.000 0.080 6 30479897 intergenic variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116480994
rs116480994
2 0.925 0.080 6 30064745 3 prime UTR variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1204382931
rs1204382931
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs12951053
rs12951053
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs17486278
rs17486278
9 0.827 0.120 15 78575140 intron variant A/C snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs188912830
rs188912830
3 0.882 0.080 X 153981098 non coding transcript exon variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs2844337
rs2844337
4 0.851 0.120 11 77322663 3 prime UTR variant A/C snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs425366
rs425366
4 0.851 0.080 3 283727 intron variant A/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs4713354
rs4713354
3 0.882 0.080 6 30717643 upstream gene variant A/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs55902839
rs55902839
1 1.000 0.080 2 201641266 intron variant A/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs67340775
rs67340775
1 1.000 0.080 6 28336607 intron variant A/C snv 6.3E-02 0.700 1.000 1 2017 2017