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: 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: 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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2014 2014
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: rs138089183
rs138089183
MUTYH
2 0.925 0.120 1 45332174 missense variant G/A snv 4.5E-04 5.0E-04 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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