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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.100 1.000 12 1999 2010
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.060 1.000 6 1995 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2009 2019
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.040 1.000 4 2012 2020
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs3176123
rs3176123
3 1.000 0.040 20 23046776 3 prime UTR variant T/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs3917862
rs3917862
2 1.000 0.040 1 169623875 intron variant A/G snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs398124629
rs398124629
2 0.925 0.120 17 66228149 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs765557332
rs765557332
APC
4 0.851 0.120 5 112835075 missense variant G/A snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs805297
rs805297
6 0.851 0.280 6 31654829 intron variant C/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs878853423
rs878853423
APC
4 0.851 0.120 5 112837663 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs9923231
rs9923231
6 0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.100 1.000 13 1995 2019
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1371086615
rs1371086615
APC
4 0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1276352833
rs1276352833
FGA
2 0.925 0.080 4 154586057 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2005 2009
dbSNP: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1226052130
rs1226052130
2 0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1314498183
rs1314498183
1 1.000 0.040 1 11803469 missense variant G/A snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2000 2000