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: rs11082011
rs11082011
3 0.925 0.040 18 37565159 intron variant C/T snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs2984618
rs2984618
3 0.925 0.040 1 47224766 intron variant G/T snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1545843
rs1545843
6 0.827 0.120 12 84170289 intron variant G/A snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs2268666
rs2268666
1 1.000 0.040 6 146424952 intron variant C/T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.050 1.000 5 2009 2017
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs9825823
rs9825823
5 0.851 0.080 3 61096480 intron variant T/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs7555693
rs7555693
3 0.925 0.040 1 106295917 intergenic variant G/A snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs40184
rs40184
5 0.851 0.120 5 1394962 intron variant C/T snv 0.45 0.020 1.000 2 2008 2010
dbSNP: rs4238989
rs4238989
4 0.851 0.120 17 76467306 intron variant C/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.060 0.833 6 2007 2017
dbSNP: rs1549854
rs1549854
3 0.882 0.040 15 66404397 intron variant A/C;G snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 11 2005 2019
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
dbSNP: rs231779
rs231779
5 0.827 0.160 2 203869764 intron variant C/T snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.050 1.000 5 2010 2019
dbSNP: rs9321987
rs9321987
3 0.925 0.040 6 144709148 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs4839421
rs4839421
3 0.925 0.040 1 110479338 intron variant C/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 1.000 11 2000 2019
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs6740584
rs6740584
4 0.882 0.040 2 207564627 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2009 2009