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: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.810 1.000 4 2010 2017
dbSNP: rs11742570
rs11742570
3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 4 2010 2017
dbSNP: rs1250550
rs1250550
5 0.851 0.240 10 79300560 intron variant C/A snv 0.27 0.820 1.000 4 2010 2017
dbSNP: rs1456896
rs1456896
5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.800 1.000 4 2008 2017
dbSNP: rs17293632
rs17293632
12 0.763 0.240 15 67150258 intron variant C/T snv 0.17 0.800 1.000 4 2010 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2012
dbSNP: rs1847472
rs1847472
7 0.807 0.200 6 90263440 intron variant C/A snv 0.25 0.800 1.000 4 2010 2017
dbSNP: rs2188962
rs2188962
5 0.882 0.160 5 132435113 intron variant C/T snv 0.29 0.810 1.000 4 2008 2017
dbSNP: rs2284553
rs2284553
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.800 1.000 4 2012 2017
dbSNP: rs2301436
rs2301436
11 0.752 0.320 6 167024500 intron variant C/T snv 0.42 0.810 1.000 4 2008 2016
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.820 1.000 4 2008 2016
dbSNP: rs4263839
rs4263839
7 0.807 0.160 9 114804160 intron variant A/G snv 0.75 0.830 0.750 4 2008 2014
dbSNP: rs4802307
rs4802307
6 0.827 0.120 19 46346549 upstream gene variant G/T snv 0.21 0.800 1.000 4 2012 2017
dbSNP: rs540973741
rs540973741
2 0.925 0.120 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 4 2007 2012
dbSNP: rs56167332
rs56167332
7 0.807 0.160 5 159400761 intron variant C/A;T snv 0.700 1.000 4 2015 2019
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.040 1.000 4 2009 2015
dbSNP: rs7746082
rs7746082
5 0.851 0.160 6 105987394 regulatory region variant G/A;C snv 0.810 1.000 4 2008 2017
dbSNP: rs9271366
rs9271366
9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.820 1.000 4 2011 2015
dbSNP: rs10045431
rs10045431
4 0.851 0.240 5 159387525 intron variant A/C snv 0.78 0.810 1.000 3 2008 2014
dbSNP: rs10495903
rs10495903
2 1.000 0.040 2 43579779 intron variant C/T snv 0.13 0.800 1.000 3 2010 2017
dbSNP: rs11175593
rs11175593
3 0.882 0.160 12 40208138 non coding transcript exon variant C/T snv 2.8E-02 0.820 1.000 3 2008 2013
dbSNP: rs11747270
rs11747270
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.820 0.667 3 2008 2020
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.810 1.000 3 2007 2012
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.030 0.667 3 2013 2015
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 3 2015 2017