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: rs2376549
rs2376549
2 0.925 0.120 20 31411284 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs2494938
rs2494938
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs6490061
rs6490061
2 0.925 0.120 12 111335541 intron variant T/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs6897169
rs6897169
1 1.000 0.080 5 40726036 intron variant C/A;T snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs7624041
rs7624041
1 1.000 0.080 3 94389819 intergenic variant G/A snv 0.89 0.700 1.000 1 2020 2020
dbSNP: rs7712641
rs7712641
1 1.000 0.080 5 89607147 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs7849280
rs7849280
ABO
1 1.000 0.080 9 133251249 non coding transcript exon variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs80142782
rs80142782
1 1.000 0.080 1 155515236 intron variant T/C snv 2.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1203145163
rs1203145163
1 1.000 0.080 21 42363329 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1400295986
rs1400295986
APC
2 0.925 0.080 5 112838233 missense variant T/C snv 0.700 0
dbSNP: rs1555515731
rs1555515731
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 0
dbSNP: rs180177133
rs180177133
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs202208566
rs202208566
1 1.000 0.080 12 109903156 missense variant T/C snv 6.5E-04 1.7E-04 0.700 0
dbSNP: rs367807476
rs367807476
1 1.000 0.080 19 1223035 missense variant C/G;T snv 9.2E-06 1.4E-05 0.700 0
dbSNP: rs372481703
rs372481703
APC
1 1.000 0.080 5 112839106 missense variant G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587780537
rs587780537
5 0.925 0.080 16 68810224 missense variant G/A snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.870 23 2005 2018
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.100 1.000 16 2010 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.750 16 2002 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.100 0.733 15 2010 2017
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.786 14 2001 2017
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.100 0.857 14 2012 2018