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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.973 149 2004 2020
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.900 0.945 55 2007 2019
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.853 34 1997 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.806 31 2002 2019
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.900 0.964 28 2007 2019
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.900 1.000 24 2008 2019
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 0.913 23 2008 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.750 20 2006 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.750 20 2006 2018
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.900 1.000 19 2008 2019
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.890 0.938 16 2007 2019
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.900 1.000 15 2008 2019
dbSNP: rs12953717
rs12953717
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.900 1.000 14 2007 2018
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.900 1.000 14 2008 2019
dbSNP: rs267608140
rs267608140
2 0.925 0.160 2 47806838 missense variant T/A;C snv 0.700 1.000 12 1999 2012
dbSNP: rs4779584
rs4779584
16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.870 1.000 12 2008 2016
dbSNP: rs63750157
rs63750157
1 1.000 0.080 2 47804943 missense variant T/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750358
rs63750358
1 1.000 0.080 2 47800037 missense variant G/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750637
rs63750637
1 1.000 0.080 2 47800343 missense variant C/G;T snv 0.700 1.000 12 1999 2012
dbSNP: rs137853148
rs137853148
1 1.000 0.080 8 17589479 missense variant C/T snv 0.800 1.000 11 1995 2015
dbSNP: rs267607894
rs267607894
4 0.925 0.160 3 37050628 missense variant T/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750217
rs63750217
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750303
rs63750303
4 0.882 0.160 3 37014485 missense variant G/A;T snv 0.700 1.000 11 1996 2008
dbSNP: rs63750437
rs63750437
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750718
rs63750718
1 1.000 0.080 3 37047589 missense variant A/G snv 0.700 1.000 11 1996 2008