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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.040 1.000 4 2004 2010
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs2108622
rs2108622
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs29221
rs29221
1 6 29621347 intron variant C/G snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs4704846
rs4704846
2 1.000 5 157086333 3 prime UTR variant G/A snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs4848306
rs4848306
6 0.851 0.120 2 112840530 non coding transcript exon variant G/A snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2015 2015
dbSNP: rs6902403
rs6902403
1 6 154157868 3 prime UTR variant T/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs737866
rs737866
2 1.000 0.080 22 19942586 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2007 2007
dbSNP: rs9825563
rs9825563
2 1.000 0.080 3 114181373 intron variant A/G snv 0.36 0.010 1.000 1 2018 2018