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: rs3746619
rs3746619
3 0.925 0.200 20 56248749 5 prime UTR variant C/A snv 0.14 0.21 0.010 1.000 1 2016 2016
dbSNP: rs3827103
rs3827103
2 0.925 0.200 20 56248973 missense variant G/A snv 0.14 0.19 0.010 1.000 1 2016 2016
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.040 1.000 4 2010 2018
dbSNP: rs52804924
rs52804924
2 0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2018 2018
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2241423
rs2241423
7 0.882 0.120 15 67794500 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs7895833
rs7895833
12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.020 1.000 2 2015 2016
dbSNP: rs7069102
rs7069102
10 0.790 0.440 10 67903362 intron variant C/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs2273773
rs2273773
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs659366
rs659366
17 0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs1800849
rs1800849
5 0.851 0.160 11 74009120 upstream gene variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs274609
rs274609
1 1.000 0.080 1 74504631 intron variant A/G snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs4704397
rs4704397
13 0.807 0.200 5 77222617 intron variant G/A snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs854566
rs854566
2 0.925 0.080 7 95319437 intron variant A/G snv 0.78 0.010 1.000 1 2013 2013
dbSNP: rs6234
rs6234
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.010 1.000 1 2017 2017
dbSNP: rs6232
rs6232
2 0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02 0.020 1.000 2 2014 2017