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: rs4585146
rs4585146
1 1.000 0.040 3 192100853 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs6537837
rs6537837
1 1.000 0.040 1 109577110 intron variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs6799788
rs6799788
1 1.000 0.040 3 159926508 intron variant A/G snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs7174755
rs7174755
1 1.000 0.040 15 68304789 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs7713917
rs7713917
3 0.925 0.040 5 79533426 upstream gene variant A/G snv 0.54 0.800 1.000 1 2010 2010
dbSNP: rs8050326
rs8050326
1 1.000 0.040 16 86070536 regulatory region variant G/A snv 0.49 0.800 1.000 1 2013 2013
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.780 1.000 9 2009 2017
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: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.710 1.000 2 2016 2018
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: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.710 1.000 2 2012 2013
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.710 1.000 2 2011 2016
dbSNP: rs7597593
rs7597593
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.710 1.000 2 2017 2019
dbSNP: rs9540720
rs9540720
1 1.000 0.040 13 66348573 intron variant A/G snv 0.46 0.710 1.000 2 2016 2018
dbSNP: rs139438618
rs139438618
5 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 0.710 1.000 1 2017 2017
dbSNP: rs2715157
rs2715157
1 1.000 0.040 7 82839058 intron variant A/G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs12552
rs12552
3 1.000 0.040 13 53051646 3 prime UTR variant A/G snv 0.58 0.700 1.000 4 2016 2019
dbSNP: rs10149470
rs10149470
3 1.000 0.040 14 103551616 upstream gene variant A/G snv 0.54 0.700 1.000 3 2018 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: rs10789340
rs10789340
2 0.925 0.120 1 72474590 intron variant A/G;T snv 0.700 1.000 2 2018 2019
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: 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: 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