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: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.790 0.900 10 2008 2018
dbSNP: rs1451240
rs1451240
4 0.925 0.080 8 42691568 intergenic variant A/G snv 0.64 0.710 1.000 1 2012 2012
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.100 1.000 29 2008 2018
dbSNP: rs578776
rs578776
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.050 1.000 5 2009 2014
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.040 1.000 4 2004 2016
dbSNP: rs1044397
rs1044397
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.040 1.000 4 2004 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2006 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2011 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2009 2017
dbSNP: rs11636753
rs11636753
4 0.882 0.120 15 78636604 intron variant G/T snv 0.35 0.020 1.000 2 2012 2015
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2013 2018
dbSNP: rs1948
rs1948
5 0.827 0.160 15 78625057 synonymous variant A/G;T snv 0.69 0.020 1.000 2 2017 2018
dbSNP: rs2236196
rs2236196
1 1.000 0.080 20 63346204 3 prime UTR variant G/A;C snv 0.71 0.020 1.000 2 2005 2009
dbSNP: rs2472553
rs2472553
1 1.000 0.080 8 27470994 missense variant G/A;T snv 0.17 0.020 1.000 2 2014 2014
dbSNP: rs3733829
rs3733829
5 0.882 0.120 19 40804666 non coding transcript exon variant A/G snv 0.28 0.020 1.000 2 2012 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2015 2015
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2012 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2011 2017
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2004 2017
dbSNP: rs6474412
rs6474412
4 0.925 0.120 8 42695355 upstream gene variant C/T snv 0.64 0.020 1.000 2 2012 2017
dbSNP: rs6495308
rs6495308
8 0.851 0.160 15 78615314 intron variant T/C snv 0.29 0.020 1.000 2 2012 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2015 2015
dbSNP: rs880395
rs880395
2 1.000 0.080 15 78552014 3 prime UTR variant A/G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs10082479
rs10082479
1 1.000 0.080 10 49621173 intron variant A/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2013 2013