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: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1254244346
rs1254244346
1 1.000 0.080 9 104822502 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs137853200
rs137853200
2 0.925 0.120 1 16129440 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs139787163
rs139787163
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs1424847607
rs1424847607
1 1.000 0.080 1 16133591 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs63751127
rs63751127
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs772862415
rs772862415
1 1.000 0.080 11 35211278 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs773393960
rs773393960
1 1.000 0.080 7 5977653 missense variant G/A;C snv 8.1E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2013 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2013 2018
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.700 1.000 14 2007 2019
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 8 2007 2019
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 6 2008 2019
dbSNP: rs704017
rs704017
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs11255841
rs11255841
11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.700 1.000 5 2014 2019
dbSNP: rs6687758
rs6687758
11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.700 1.000 5 2010 2019
dbSNP: rs7229639
rs7229639
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.700 1.000 5 2014 2019
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 4 2007 2018
dbSNP: rs10774214
rs10774214
9 0.790 0.080 12 4259186 intron variant T/C snv 0.54 0.700 1.000 4 2013 2019
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.700 1.000 4 2008 2019
dbSNP: rs11196172
rs11196172
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.700 1.000 4 2014 2019
dbSNP: rs174537
rs174537
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 4 2014 2019