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: rs2839698
rs2839698
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 < 0.001 1 2017 2017
dbSNP: rs3135945
rs3135945
2 1.000 0.200 3 48467567 synonymous variant G/A snv 9.4E-03 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs3792783
rs3792783
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs4522865
rs4522865
4 0.882 0.240 4 101794731 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs485497
rs485497
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4917014
rs4917014
8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs4917129
rs4917129
6 0.807 0.240 7 50283578 intergenic variant T/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs704840
rs704840
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs7812879
rs7812879
6 0.807 0.320 8 11482672 upstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2008 2008
dbSNP: rs844648
rs844648
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs9514828
rs9514828
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.010 1.000 1 2014 2014