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: rs3135388
rs3135388
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 1.000 1 2013 2013
dbSNP: rs7552167
rs7552167
6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs10733113
rs10733113
3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2442598
rs2442598
2 0.925 0.120 8 6537300 intron variant T/C snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs6474412
rs6474412
4 0.925 0.120 8 42695355 upstream gene variant C/T snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs27524
rs27524
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
dbSNP: rs4649203
rs4649203
4 0.851 0.160 1 24193430 intergenic variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs892085
rs892085
2 0.925 0.040 19 10707416 intron variant G/A snv 0.57 0.59 0.700 1.000 1 2015 2015
dbSNP: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.710 1.000 2 2015 2015
dbSNP: rs518604
rs518604
1 1.000 0.040 11 104998504 intron variant G/A snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs4685408
rs4685408
2 0.925 0.040 3 16954543 intron variant G/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs2675662
rs2675662
2 0.925 0.040 10 73839369 intron variant A/G snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs2675669
rs2675669
1 1.000 0.040 10 73894114 intergenic variant C/T snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs10754557
rs10754557
1 1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51 0.010 1.000 1 2018 2018
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2016 2016
dbSNP: rs12884468
rs12884468
2 0.925 0.040 14 35383280 downstream gene variant T/C snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs4810482
rs4810482
1 1.000 0.040 20 46005911 upstream gene variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs4696480
rs4696480
19 0.716 0.400 4 153685974 intron variant T/A snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs878329
rs878329
4 0.882 0.120 17 5649930 intergenic variant G/C snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs1020760
rs1020760
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016