Gene: MUTYH ×
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 0.941 5 2002 2019
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 4 2002 2019
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 6 2004 2012
dbSNP: rs587783057
rs587783057
MUTYH
3 0.925 0.120 1 45331676 stop gained G/A snv 1.2E-05 0.700 1.000 6 2005 2009
dbSNP: rs529008617
rs529008617
MUTYH
4 0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 0.700 1.000 4 2005 2010
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 4 2006 2009
dbSNP: rs587780088
rs587780088
MUTYH
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 4 2008 2009
dbSNP: rs587782885
rs587782885
MUTYH
3 0.925 0.120 1 45332440 stop gained G/A;C snv 4.0E-06 0.700 1.000 4 2005 2009
dbSNP: rs587781628
rs587781628
MUTYH
5 0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06 0.700 1.000 3 2004 2005