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: rs3814113
rs3814113
5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.720 1.000 4 2009 2013
dbSNP: rs2660753
rs2660753
9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10810666
rs10810666
1 1.000 0.120 9 16911668 intergenic variant C/T snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs10962656
rs10962656
1 1.000 0.120 9 16877790 intergenic variant G/A snv 0.10 0.700 1.000 1 2009 2009
dbSNP: rs4445329
rs4445329
1 1.000 0.120 9 16911759 intergenic variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs4954956
rs4954956
3 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs67397200
rs67397200
5 0.827 0.160 19 17290595 upstream gene variant C/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs6785617
rs6785617
4 0.882 0.120 3 172501054 downstream gene variant A/T snv 3.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs7313833
rs7313833
4 0.851 0.120 12 27930263 intergenic variant G/A snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs7365052
rs7365052
3 0.882 0.120 1 236786561 intergenic variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs874945
rs874945
14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs2229109
rs2229109
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs35068177
rs35068177
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs186724
rs186724
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.030 1.000 3 2007 2008
dbSNP: rs387906659
rs387906659
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.020 1.000 2 2007 2008
dbSNP: rs397514606
rs397514606
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs2363956
rs2363956
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.710 1.000 2 2010 2012
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1997 1998
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.720 1.000 2 1997 1998
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014