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: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.030 1.000 3 2009 2016
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs12415800
rs12415800
1 1.000 0.040 10 67864422 intergenic variant G/A;C snv 0.720 1.000 3 2018 2019
dbSNP: rs1545843
rs1545843
6 0.827 0.120 12 84170289 intron variant G/A snv 0.52 0.720 1.000 3 2011 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 0.333 3 2007 2019
dbSNP: rs242939
rs242939
3 0.882 0.120 17 45818213 intron variant C/T snv 0.86 0.030 1.000 3 2007 2013
dbSNP: rs242941
rs242941
9 0.790 0.200 17 45815154 intron variant A/C snv 0.62 0.030 1.000 3 2007 2013
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.030 1.000 3 2009 2016
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.030 1.000 3 2012 2017
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.030 0.667 3 2010 2013
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.030 1.000 3 2011 2019
dbSNP: rs1021363
rs1021363
1 1.000 0.040 10 104851081 intron variant A/G snv 0.74 0.700 1.000 2 2018 2019
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs10774037
rs10774037
3 0.882 0.040 12 2311360 intron variant G/A snv 0.77 0.800 1.000 2 2013 2019
dbSNP: rs10789340
rs10789340
2 0.925 0.120 1 72474590 intron variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.710 1.000 2 2011 2011
dbSNP: rs11135349
rs11135349
1 1.000 0.040 5 165096466 intron variant A/C snv 0.61 0.700 1.000 2 2018 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2014 2019
dbSNP: rs11599236
rs11599236
2 1.000 0.040 10 104694914 intron variant T/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs11663393
rs11663393
DCC
2 1.000 0.040 18 53088362 intron variant G/A snv 0.40 0.700 1.000 2 2018 2018
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs1226412
rs1226412
1 1.000 0.040 2 156254801 non coding transcript exon variant C/T snv 0.73 0.700 1.000 2 2018 2019
dbSNP: rs12520799
rs12520799
1 1.000 0.040 5 135446760 stop gained T/A;C snv 0.51 0.020 0.500 2 2011 2013
dbSNP: rs12967143
rs12967143
1 1.000 0.040 18 55431781 intron variant G/C snv 0.55 0.700 1.000 2 2018 2019
dbSNP: rs12967855
rs12967855
2 1.000 0.040 18 37558282 intron variant A/G snv 0.52 0.700 1.000 2 2018 2019