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: rs11428092
rs11428092
1 1.000 0.040 2 61301164 intron variant -/A delins 0.34 0.010 1.000 1 2017 2017
dbSNP: rs17524488
rs17524488
4 0.925 0.040 4 87975555 non coding transcript exon variant -/G delins 0.010 1.000 1 2018 2018
dbSNP: rs10775412
rs10775412
5 0.827 0.120 17 27542007 intron variant A/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs1551399
rs1551399
5 0.827 0.120 8 125527723 intron variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs17780256
rs17780256
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2239704
rs2239704
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 < 0.001 1 2017 2017
dbSNP: rs422544
rs422544
2 0.925 0.120 6 33058333 regulatory region variant A/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs61802846
rs61802846
5 0.827 0.120 1 161504083 upstream gene variant A/C snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs68177277
rs68177277
1 1.000 0.040 14 88008109 intron variant A/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs8088140
rs8088140
1 1.000 0.040 18 24469176 intron variant A/C snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs1009759
rs1009759
1 1.000 0.040 9 5556786 intron variant A/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs11062385
rs11062385
1 1.000 0.040 12 318409 missense variant A/C;G snv 1.2E-05; 0.31 0.010 1.000 1 2011 2011
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs148783236
rs148783236
1 1.000 0.040 15 50492819 missense variant A/C;G snv 2.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.700 1.000 1 2013 2013
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs2227981
rs2227981
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2011 2011
dbSNP: rs2857151
rs2857151
2 0.925 0.160 6 32795737 intergenic variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs714830
rs714830
5 0.827 0.120 6 20624151 intron variant A/C;G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs7195296
rs7195296
5 0.827 0.120 16 11655918 intergenic variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs4149570
rs4149570
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4672505
rs4672505
5 0.827 0.120 2 62333197 regulatory region variant A/C;G;T snv 0.700 1.000 1 2016 2016