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: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs12150079
rs12150079
9 0.807 0.280 17 39869164 intron variant G/A snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1190999960
rs1190999960
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs750814369
rs750814369
3 1.000 0.080 11 65570617 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs6940552
rs6940552
3 1.000 0.080 6 30044563 intron variant G/A snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs9261204
rs9261204
9 0.790 0.200 6 30037466 intron variant A/G snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs3757328
rs3757328
6 0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs16948048
rs16948048
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs1343795
rs1343795
5 0.882 0.120 17 49334880 intron variant C/A snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs7225787
rs7225787
1 17 49351211 intron variant A/C snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs71305152
rs71305152
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs7190256
rs7190256
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs1285547057
rs1285547057
2 10 31520321 missense variant G/A snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs12369179
rs12369179
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs3747093
rs3747093
16 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs762471803
rs762471803
6 0.925 0.040 11 102114201 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs2267437
rs2267437
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.020 1.000 2 2013 2015
dbSNP: rs132770
rs132770
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs5751129
rs5751129
14 0.752 0.320 22 41619761 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs2075686
rs2075686
13 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs28360071
rs28360071
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2013 2013
dbSNP: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.030 0.667 3 2004 2014
dbSNP: rs3810378
rs3810378
3 1.000 0.120 19 43577449 intron variant G/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.813 16 2003 2018
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.917 12 2002 2019