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
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.929 14 2008 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.929 14 2008 2019
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.070 0.857 7 2012 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.030 1.000 3 2011 2013
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.030 0.667 3 2006 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2014
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.020 1.000 2 2011 2013
dbSNP: rs35502531
rs35502531
MLH1
8 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.020 0.500 2 2011 2012
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs1060504000
rs1060504000
MLH1
2 0.925 0.160 3 37025666 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs1172901314
rs1172901314
MRC1
4 0.851 0.160 10 17833714 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1260021106
rs1260021106
MLH1
2 0.925 0.160 3 37025645 missense variant A/G snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs12947788
rs12947788
TP53
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1392665848
rs1392665848
MLH1
2 0.925 0.160 3 37025865 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs143969848
rs143969848 		4 0.925 0.160 3 36958902 TF binding site variant G/A snv 9.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 2017 2017
dbSNP: rs146421227
rs146421227
MSH2
3 0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs2075786
rs2075786
TERT
8 0.790 0.360 5 1266195 intron variant A/G snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs267607713
rs267607713
MLH1
4 0.882 0.160 3 36996623 splice acceptor variant G/C snv 0.010 1.000 1 2015 2015