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: rs113507694
rs113507694
1 1.000 0.040 12 7714013 intron variant A/G snv 3.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.090 0.667 9 2003 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.090 0.667 9 2003 2017
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.020 0.500 2 2011 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2011 2015
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.020 1.000 2 2009 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 < 0.001 2 2010 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 < 0.001 2 2011 2015
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 2010
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2003 2010
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs10083466
rs10083466
1 1.000 0.040 14 79518375 intron variant C/A snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs10947563
rs10947563
3 0.925 0.040 6 35685660 intron variant G/A snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs11199993
rs11199993
2 0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1128306
rs1128306
2 0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs12290811
rs12290811
3 0.882 0.120 11 79372576 intron variant T/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs12701020
rs12701020
3 0.925 0.040 7 30655345 intron variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs12718541
rs12718541
2 0.925 0.080 7 50482446 intron variant A/G snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs1311223100
rs1311223100
2 0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 < 0.001 1 2015 2015
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2006 2006
dbSNP: rs1497020
rs1497020
2 0.925 0.120 8 20144915 3 prime UTR variant G/A snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1610037
rs1610037
2 0.925 0.120 18 910634 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2008 2008