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: rs1060501335
rs1060501335
MUTYH
2 0.925 0.120 1 45331684 missense variant A/G snv 0.700 1.000 6 2005 2015
dbSNP: rs372267274
rs372267274
MUTYH
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 1.000 3 2004 2013
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs112422930
rs112422930
MUTYH
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs587781295
rs587781295
MUTYH
2 1.000 0.080 1 45333166 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs750487805
rs750487805
APC
1 1.000 0.080 5 112819315 missense variant A/G snv 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs1553129062
rs1553129062
MUTYH
1 1.000 0.080 1 45332831 frameshift variant C/- delins 0.700 0
dbSNP: rs888691362
rs888691362
MUTYH
3 0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs376790729
rs376790729
MUTYH
3 0.925 0.120 1 45331223 stop gained C/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 1 2007 2007
dbSNP: rs143353451
rs143353451
MUTYH
5 0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.700 1.000 5 2010 2018
dbSNP: rs730881832
rs730881832
MUTYH
3 0.925 0.120 1 45333168 missense variant A/T snv 4.0E-06 0.700 1.000 5 2003 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs770649674
rs770649674
APC
6 0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs730881833
rs730881833
MUTYH
6 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.700 1.000 4 2007 2017
dbSNP: rs1454182060
rs1454182060
TLR4
1 1.000 0.080 9 117713986 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1268298845
rs1268298845
APC
4 0.882 0.120 5 112780878 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs587782228
rs587782228
MUTYH
4 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 0.700 1.000 11 2006 2015
dbSNP: rs138775799
rs138775799
MUTYH
3 0.925 0.120 1 45333472 stop gained G/A snv 1.2E-05 3.5E-05 0.700 1.000 8 2003 2010
dbSNP: rs756456544
rs756456544
SGSM3
1 1.000 0.080 22 40401646 missense variant C/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs746449748
rs746449748
MUTYH
3 0.925 0.120 1 45333561 splice acceptor variant C/- delins 1.6E-05 0.700 0
dbSNP: rs200844166
rs200844166
MUTYH
3 0.882 0.160 1 45331240 missense variant G/T snv 2.4E-05 5.6E-05 0.700 0
dbSNP: rs587782868
rs587782868
APC
5 0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs765123255
rs765123255
MUTYH
5 0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05 0.700 1.000 6 2009 2015