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: 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: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs587781394
rs587781394
APC
3 0.882 0.160 5 112837812 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs758712508
rs758712508
APC
2 0.925 0.160 5 112838286 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2005 2017
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 0.020 1.000 2 2005 2017
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2007 2014
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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.957 23 2004 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.957 23 2004 2019
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: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2009 2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
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: rs41285097
rs41285097
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993506 5 prime UTR variant C/G;T snv 4.4E-05 0.700 1.000 2 2003 2005
dbSNP: rs111052004
rs111052004
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs72481822
rs72481822
MLH1 ; EPM2AIP1
4 0.925 0.160 3 36993550 start lost G/A;T snv 0.700 0
dbSNP: rs587779029
rs587779029
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993552 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs63750745
rs63750745
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993556 frameshift variant C/- del 0.700 0
dbSNP: rs63751891
rs63751891
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993559 frameshift variant AGGGGTTATTCGGC/- delins 0.700 0
dbSNP: rs63751892
rs63751892
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993563 frameshift variant GGTTATTCGGCGGCTGG/- delins 0.700 0