Source: ALL
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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2005 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2005 2019
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1999 2007
dbSNP: rs121912532
rs121912532
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.030 1.000 3 2000 2011
dbSNP: rs386352352
rs386352352
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2007 2011
dbSNP: rs386352318
rs386352318
4 0.925 0.080 11 128911776 missense variant T/G snv 0.020 1.000 2 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2006 2006
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs1060503115
rs1060503115
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs121908874
rs121908874
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs121912535
rs121912535
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs121913228
rs121913228
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1268298845
rs1268298845
APC
4 0.882 0.120 5 112780878 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1290398674
rs1290398674
5 0.851 0.240 20 58854075 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs146462069
rs146462069
2 X 131278706 missense variant T/C;G snv 3.8E-05; 9.5E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs1535989
rs1535989
4 0.925 0.080 13 105370372 intergenic variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2011 2011