Source: ALL
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: rs3019885
rs3019885
2 0.925 0.120 8 117013406 intron variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs3129890
rs3129890
5 0.827 0.280 6 32446496 downstream gene variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs3129943
rs3129943
4 0.851 0.240 6 32370918 intron variant A/G snv 0.26 0.800 1.000 1 2011 2011
dbSNP: rs3805236
rs3805236
1 1.000 0.080 4 143436584 intron variant A/G snv 0.74 0.800 1.000 1 2011 2011
dbSNP: rs7686660
rs7686660
1 1.000 0.080 4 143082006 intron variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs7922491
rs7922491
1 1.000 0.080 10 51733713 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs9275698
rs9275698
2 0.925 0.160 6 32720196 downstream gene variant A/G snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs9500927
rs9500927
1 1.000 0.080 6 32993584 regulatory region variant G/A snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs9807989
rs9807989
2 1.000 0.080 2 102354740 intron variant T/C;G snv 0.46 0.800 1.000 1 2012 2012
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.780 1.000 12 2007 2019
dbSNP: rs8069176
rs8069176
4 0.882 0.080 17 39900944 downstream gene variant G/A;T snv 0.740 1.000 5 2008 2018
dbSNP: rs12603332
rs12603332
7 0.807 0.200 17 39926554 5 prime UTR variant T/C snv 0.49 0.730 1.000 4 2008 2017
dbSNP: rs8076131
rs8076131
11 0.790 0.200 17 39924659 intron variant G/A;C snv 0.730 1.000 4 2011 2018
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.720 1.000 5 2010 2012
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.720 1.000 5 2014 2019
dbSNP: rs4795405
rs4795405
6 0.851 0.160 17 39932164 intron variant T/A;C snv 0.720 1.000 4 2010 2013
dbSNP: rs8067378
rs8067378
12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.720 1.000 4 2010 2015
dbSNP: rs9303277
rs9303277
9 0.790 0.240 17 39820216 intron variant C/T snv 0.52 0.720 1.000 4 2010 2017
dbSNP: rs12936231
rs12936231
3 0.925 0.160 17 39872867 intron variant C/G;T snv 0.720 1.000 3 2011 2019
dbSNP: rs146597587
rs146597587
1 1.000 0.080 9 6255967 splice acceptor variant G/C snv 2.2E-03 2.0E-03 0.720 1.000 3 2017 2019
dbSNP: rs3806932
rs3806932
3 0.925 0.160 5 111069977 upstream gene variant A/G snv 0.51 0.720 1.000 3 2011 2016
dbSNP: rs6871536
rs6871536
5 0.827 0.160 5 132634182 intron variant T/C snv 0.24 0.710 1.000 4 2010 2016
dbSNP: rs8079416
rs8079416
2 0.925 0.080 17 39936460 intron variant T/C snv 0.45 0.710 1.000 4 2010 2012
dbSNP: rs1420101
rs1420101
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.710 1.000 3 2018 2019
dbSNP: rs10192157
rs10192157
2 1.000 0.080 2 102351896 missense variant C/T snv 0.34 0.46 0.710 1.000 2 2010 2020