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: rs718314
rs718314
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.040 0.750 4 2012 2016
dbSNP: rs11762213
rs11762213
MET
2 0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 0.030 1.000 3 2013 2016
dbSNP: rs7105934
rs7105934
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.030 1.000 3 2012 2014
dbSNP: rs7579899
rs7579899
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.030 1.000 3 2011 2016
dbSNP: rs1049380
rs1049380
5 0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 0.020 1.000 2 2012 2014
dbSNP: rs448012
rs448012
2 0.925 0.120 5 180619344 missense variant G/C snv 0.63 0.61 0.020 1.000 2 2014 2017
dbSNP: rs1010980331
rs1010980331
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1048798213
rs1048798213
APC
1 1.000 0.120 5 112837872 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1055259
rs1055259
1 1.000 0.120 1 109734239 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs1060502375
rs1060502375
3 0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10771279
rs10771279
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs1131690838
rs1131690838
3 0.925 0.120 17 17228135 frameshift variant C/- del 0.010 1.000 1 2019 2019
dbSNP: rs1154454
rs1154454
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs11813268
rs11813268
2 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs11894252
rs11894252
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs12553173
rs12553173
1 1.000 0.120 9 35674104 synonymous variant T/C snv 0.14 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1259293
rs1259293
2 0.925 0.120 3 120421014 intron variant T/C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs12617313
rs12617313
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1312268347
rs1312268347
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1362888828
rs1362888828
3 0.925 0.120 21 31266532 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs141683432
rs141683432
4 0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs1417080
rs1417080
2 0.925 0.120 9 79515946 non coding transcript exon variant T/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1442780982
rs1442780982
APC
1 1.000 0.120 5 112837977 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1449964136
rs1449964136
2 0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1642742
rs1642742
VHL
1 1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018