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: rs798766
rs798766
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.770 0.889 9 2010 2017
dbSNP: rs9642880
rs9642880
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.760 1.000 9 2008 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs710521
rs710521
4 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 0.740 1.000 8 2008 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015
dbSNP: rs11892031
rs11892031
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 4 2010 2015
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.720 1.000 4 2010 2016
dbSNP: rs833052
rs833052
5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.040 1.000 4 2003 2017
dbSNP: rs1014971
rs1014971
3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.720 1.000 3 2010 2016
dbSNP: rs10775480
rs10775480
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 3 2011 2014
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs17674580
rs17674580
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.730 1.000 3 2011 2014
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.710 0.667 3 2010 2014
dbSNP: rs6869366
rs6869366
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.030 1.000 3 2009 2013
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs762551
rs762551
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.030 1.000 3 2015 2016
dbSNP: rs8102137
rs8102137
3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.720 1.000 3 2010 2014
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs1046778
rs1046778
4 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 0.020 1.000 2 2018 2018
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.020 0.500 2 2013 2014
dbSNP: rs10748835
rs10748835
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.020 1.000 2 2018 2018
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.800 1.000 2 1999 2001
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2015 2015