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: 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: rs587778541
rs587778541
MUTYH
3 0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05 0.700 1.000 6 2009 2016
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: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.770 1.000 14 2005 2017
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: rs200495564
rs200495564
MUTYH
3 0.925 0.120 1 45332446 missense variant G/A snv 5.6E-05 2.8E-05 0.700 1.000 12 2005 2018
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: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 14 2005 2019
dbSNP: rs587780078
rs587780078
MUTYH
4 0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 0.710 1.000 5 2009 2020
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