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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.897 29 2006 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 11 2005 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 1.000 11 2000 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.050 1.000 5 2010 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2014 2019
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.020 1.000 2 2012 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 1.000 2 2012 2019
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs12649507
rs12649507
4 0.851 0.080 4 55514317 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs2137947
rs2137947
3 0.882 0.040 3 4989276 downstream gene variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs4630333
rs4630333
4 0.882 0.040 12 56443632 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.880 25 2006 2018
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 1.000 11 1999 2018
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs11082011
rs11082011
3 0.925 0.040 18 37565159 intron variant C/T snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs11155372
rs11155372
3 0.925 0.040 6 144698602 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11591827
rs11591827
3 0.925 0.040 10 81128126 intergenic variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs116609693
rs116609693
2 0.925 0.040 9 92811394 intron variant C/T snv 6.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11728985
rs11728985
3 0.925 0.040 4 129115280 3 prime UTR variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs12555870
rs12555870
3 0.925 0.040 9 23347726 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2018 2018