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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2006 2015
dbSNP: rs4921483
rs4921483
1 1.000 0.080 5 159341357 intron variant A/G snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.020 1.000 2 2012 2017
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.020 1.000 2 2011 2011
dbSNP: rs354528
rs354528
1 1.000 0.080 6 111184068 intron variant C/T snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2018 2019
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.020 1.000 2 2009 2011
dbSNP: rs4908742
rs4908742
2 0.925 0.080 1 8184970 upstream gene variant A/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs4535211
rs4535211
1 1.000 0.080 3 17031505 intron variant A/G snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs10888503
rs10888503
2 0.925 0.080 1 152621073 downstream gene variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2631367
rs2631367
4 0.925 0.120 5 132369766 5 prime UTR variant C/G snv 0.59 0.010 1.000 1 2005 2005
dbSNP: rs4085613
rs4085613
5 0.827 0.160 1 152577542 downstream gene variant T/G snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2016 2016
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs12883343
rs12883343
2 0.925 0.080 14 35383268 downstream gene variant C/G;T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs9321623
rs9321623
2 0.925 0.080 6 137637128 regulatory region variant C/T snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2012 2012
dbSNP: rs4655683
rs4655683
1 1.000 0.080 1 67145930 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs702873
rs702873
3 0.882 0.120 2 60854407 intron variant C/T snv 0.35 0.810 1.000 1 2012 2012
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.050 1.000 5 2008 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.040 1.000 4 2008 2019