Source: CLINVAR ×
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: rs36053993
rs36053993
MUTYH
9 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.800 1.000 34 2002 2016
dbSNP: rs34612342
rs34612342
MUTYH
11 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 23 2002 2017
dbSNP: rs140342925
rs140342925
MUTYH
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.800 1.000 12 2002 2017
dbSNP: rs374950566
rs374950566
MUTYH
2 1.000 0.120 1 45332215 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 11 2002 2016
dbSNP: rs529008617
rs529008617
MUTYH
4 0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 0.800 1.000 11 2002 2017
dbSNP: rs34126013
rs34126013
MUTYH
2 0.925 0.160 1 45332458 missense variant G/A snv 6.8E-05 2.1E-05 0.800 1.000 9 2002 2016
dbSNP: rs587782228
rs587782228
MUTYH
3 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 0.800 1.000 9 2002 2017
dbSNP: rs747993448
rs747993448
MUTYH
2 1.000 0.120 1 45332795 missense variant G/A snv 4.0E-06 2.8E-05 0.800 1.000 9 2004 2017
dbSNP: rs769237459
rs769237459
MUTYH
2 1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06 0.800 1.000 8 2002 2017
dbSNP: rs143353451
rs143353451
MUTYH
3 0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.800 1.000 7 2004 2017
dbSNP: rs730881833
rs730881833
MUTYH
3 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.800 1.000 4 2007 2015
dbSNP: rs876659676
rs876659676
MUTYH
2 1.000 0.120 1 45332252 missense variant T/C snv 4.0E-06 1.4E-05 0.800 1.000 4 2002 2016
dbSNP: rs1057517765
rs1057517765
MUTYH
1 1.000 0.120 1 45332466 missense variant T/C;G snv 0.800 1.000 3 2008 2009
dbSNP: rs1060501335
rs1060501335
MUTYH
2 0.925 0.120 1 45331684 missense variant A/G snv 0.800 0
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 20 2003 2015
dbSNP: rs121908381
rs121908381
MUTYH
3 0.925 0.120 1 45331220 stop gained C/A snv 5.2E-05 7.0E-06 0.700 1.000 13 2002 2017
dbSNP: rs121908380
rs121908380
MUTYH
3 0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04 0.700 1.000 11 2002 2015
dbSNP: rs372267274
rs372267274
MUTYH
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 1.000 11 1987 2014
dbSNP: rs587778536
rs587778536
MUTYH
4 0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05 0.700 1.000 11 2003 2013
dbSNP: rs768130289
rs768130289
MUTYH
2 1.000 0.120 1 45331746 frameshift variant GG/-;G;GGG delins 0.700 1.000 11 2001 2015
dbSNP: rs1553125766
rs1553125766
MUTYH
1 1.000 0.120 1 45331474 frameshift variant TTC/G delins 0.700 1.000 10 1998 2015
dbSNP: rs587783057
rs587783057
MUTYH
3 0.925 0.120 1 45331676 stop gained G/A snv 1.2E-05 0.700 1.000 10 2005 2015
dbSNP: rs587780078
rs587780078
MUTYH
4 0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 0.700 1.000 9 2004 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: rs1060501346
rs1060501346
MUTYH
2 1.000 0.120 1 45332457 missense variant C/T snv 2.8E-05 0.700 1.000 7 2004 2016