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: rs121908382
rs121908382
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 1.000 3 2004 2015
dbSNP: rs121908383
rs121908383
2 1.000 0.080 1 45331502 missense variant T/C snv 0.700 1.000 3 2004 2015
dbSNP: rs121912469
rs121912469
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 1.000 3 1998 2014
dbSNP: rs121909776
rs121909776
2 1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05 0.700 1.000 2 2002 2014
dbSNP: rs10029005
rs10029005
1 1.000 0.080 4 124530209 intron variant G/A snv 0.40 0.700 1.000 1 2020 2020
dbSNP: rs10509671
rs10509671
1 1.000 0.080 10 94309297 intron variant T/G snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs1108143
rs1108143
1 1.000 0.080 2 234557214 regulatory region variant A/G snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs1452231640
rs1452231640
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1635566
rs1635566
1 1.000 0.080 1 17356662 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs17042407
rs17042407
1 1.000 0.080 2 112801337 intergenic variant T/C snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs2294693
rs2294693
3 1.000 0.080 6 41037763 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs2297882
rs2297882
2 1.000 0.080 10 15860304 5 prime UTR variant A/G snv 0.29 0.34 0.010 1.000 1 2014 2014
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 1.000 1 2014 2014
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: rs882537
rs882537
1 1.000 0.080 1 17333552 intron variant A/G snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1203145163
rs1203145163
1 1.000 0.080 21 42363329 missense variant C/A snv 7.0E-06 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: rs2070803
rs2070803
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.030 1.000 3 2011 2017
dbSNP: rs11187842
rs11187842
5 0.925 0.080 10 94292754 intron variant C/T snv 7.8E-02 0.020 1.000 2 2012 2014