Source: CURATED ×
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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
13 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.900 0.945 15 2007 2019
dbSNP: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 10 2004 2020
dbSNP: rs4939827
rs4939827
SMAD7
11 0.708 0.160 18 48927093 intron variant T/A;C snv 0.900 0.964 10 2007 2019
dbSNP: rs16892766
rs16892766 		11 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.900 1.000 9 2008 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
10 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.900 1.000 9 2008 2019
dbSNP: rs10795668
rs10795668
LOC105376400
10 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.900 1.000 4 2008 2019
dbSNP: rs12953717
rs12953717
SMAD7
9 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.900 1.000 3 2007 2018
dbSNP: rs4444235
rs4444235 		10 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.900 1.000 3 2008 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
13 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.890 0.938 7 2007 2019
dbSNP: rs4779584
rs4779584 		10 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.870 1.000 5 2008 2016
dbSNP: rs961253
rs961253 		10 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.860 1.000 4 2008 2019
dbSNP: rs9929218
rs9929218
CDH1
10 0.732 0.160 16 68787043 intron variant G/A snv 0.28 0.850 1.000 1 2008 2016
dbSNP: rs6687758
rs6687758 		10 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.840 1.000 5 2010 2019
dbSNP: rs10411210
rs10411210
RHPN2
10 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.840 1.000 3 2008 2019
dbSNP: rs10936599
rs10936599
MYNN
18 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.840 1.000 1 2010 2014
dbSNP: rs7014346
rs7014346
POU5F1B ; CASC8 ; PCAT1
11 0.732 0.240 8 127412547 intron variant A/G snv 0.63 0.830 0.889 6 2008 2019
dbSNP: rs1321311
rs1321311 		10 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.830 1.000 2 2012 2019
dbSNP: rs4925386
rs4925386
LAMA5
9 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.830 1.000 1 2010 2018
dbSNP: rs6691170
rs6691170 		9 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.830 0.667 1 2010 2013
dbSNP: rs7229639
rs7229639
SMAD7
9 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.820 1.000 5 2014 2019
dbSNP: rs11196172
rs11196172
TCF7L2
9 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.820 0.833 4 2014 2019
dbSNP: rs647161
rs647161
C5orf66
9 0.776 0.080 5 135163402 intron variant C/A snv 0.63 0.820 1.000 4 2013 2019
dbSNP: rs121913279
rs121913279
PIK3CA
48 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.820 1.000 2 2005 2016
dbSNP: rs11169552
rs11169552
ATF1
9 0.776 0.080 12 50761880 upstream gene variant C/T snv 0.23 0.820 1.000 1 2010 2012
dbSNP: rs704017
rs704017
ZMIZ1-AS1
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.810 1.000 6 2014 2019