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: rs1145724
rs1145724
1 1.000 0.080 6 90477791 intergenic variant T/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs1426107
rs1426107
1 1.000 0.080 4 14294676 regulatory region variant C/G;T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs2327990
rs2327990
1 1.000 0.080 20 16208618 intron variant T/C snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs2936519
rs2936519
1 1.000 0.080 8 6781719 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs4754687
rs4754687
1 1.000 0.080 11 100559322 intergenic variant A/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs5749032
rs5749032
1 1.000 0.080 22 17313079 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs756055
rs756055
1 1.000 0.080 14 100224841 intron variant A/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs7582977
rs7582977
1 1.000 0.080 2 174340785 upstream gene variant T/C snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs9285673
rs9285673
1 1.000 0.080 5 148793365 regulatory region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9534678
rs9534678
1 1.000 0.080 13 47544647 intergenic variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1049550
rs1049550
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs762936223
rs762936223
APC
1 1.000 0.080 5 112819342 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs769056296
rs769056296
APC
1 1.000 0.080 5 112819039 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1372330
rs1372330
1 1.000 0.080 9 116757309 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs13402783
rs13402783
1 1.000 0.080 2 85787998 3 prime UTR variant A/G snv 8.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs3815652
rs3815652
3 0.925 0.160 7 33873792 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 28 2009 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
dbSNP: rs10920654
rs10920654
1 1.000 0.080 1 190162620 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs368295543
rs368295543
1 1.000 0.080 4 15778625 missense variant A/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs776746
rs776746
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs909797662
rs909797662
8 0.790 0.120 7 55191837 missense variant G/A snv 0.050 0.800 5 2010 2016
dbSNP: rs144460286
rs144460286
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.020 1.000 2 2016 2017