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: rs587780749
rs587780749
MUTYH
2 0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06 0.700 1.000 7 2003 2015
dbSNP: rs587780751
rs587780751
MUTYH
3 0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04 0.700 1.000 7 2003 2013
dbSNP: rs765123255
rs765123255
MUTYH
3 0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05 0.700 1.000 7 2007 2015
dbSNP: rs781222233
rs781222233
MUTYH
2 1.000 0.120 1 45332887 non coding transcript exon variant TATTTCCCCTACC/- delins 8.0E-06 0.700 1.000 7 2006 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 6 2005 2015
dbSNP: rs77542170
rs77542170
MUTYH
2 1.000 0.120 1 45332088 splice acceptor variant T/C snv 1.1E-03 3.6E-04 0.700 1.000 6 2004 2016
dbSNP: rs587780082
rs587780082
MUTYH
3 0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05 0.700 1.000 5 1990 2014
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 5 2004 2011
dbSNP: rs876660190
rs876660190
MUTYH
2 1.000 0.120 1 45333100 protein altering variant -/ATCCAT delins 8.0E-06; 4.0E-06 0.700 1.000 5 2003 2016
dbSNP: rs1057520660
rs1057520660
MUTYH
1 1.000 0.120 1 45332960 splice acceptor variant C/G;T snv 0.700 1.000 4 2006 2011
dbSNP: rs1553123017
rs1553123017
MUTYH
1 1.000 0.120 1 45329405 frameshift variant -/AC delins 0.700 1.000 4 2001 2015
dbSNP: rs878854186
rs878854186
MUTYH
1 1.000 0.120 1 45329404 frameshift variant T/- del 0.700 1.000 4 2001 2015
dbSNP: rs587782885
rs587782885
MUTYH
3 0.925 0.120 1 45332440 stop gained G/A;C snv 4.0E-06 0.700 1.000 3 2005 2009
dbSNP: rs1383826978
rs1383826978
MUTYH
1 1.000 0.120 1 45334513 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 2 2008 2011
dbSNP: rs1553126848
rs1553126848
MUTYH
1 1.000 0.120 1 45331801 frameshift variant GCTCCGAGGGAGGCAGGCACAGG/- delins 0.700 1.000 2 2001 2015
dbSNP: rs1553128663
rs1553128663
MUTYH
2 1.000 0.120 1 45332689 splice acceptor variant T/C snv 0.700 1.000 2 2008 2011
dbSNP: rs1557474906
rs1557474906
MUTYH
1 1.000 0.120 1 45332489 splice acceptor variant C/T snv 0.700 1.000 2 2008 2011
dbSNP: rs587781337
rs587781337
MUTYH
2 1.000 0.120 1 45331660 splice donor variant C/A;T snv 4.0E-06 7.0E-06 0.700 1.000 2 2008 2011
dbSNP: rs587781338
rs587781338
MUTYH
2 1.000 0.120 1 45332080 stop gained G/A snv 1.2E-05 0.700 1.000 2 2005 2014
dbSNP: rs587782066
rs587782066
MUTYH
1 1.000 0.120 1 45333605 splice acceptor variant T/C snv 0.700 1.000 2 2008 2011
dbSNP: rs748170941
rs748170941
MUTYH
2 1.000 0.120 1 45333452 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs762307622
rs762307622
MUTYH
2 1.000 0.120 1 45332955 stop gained C/A;T snv 5.6E-05 2.1E-05 0.700 1.000 2 2015 2017
dbSNP: rs786203161
rs786203161
MUTYH
2 1.000 0.120 1 45332836 splice acceptor variant T/G snv 4.0E-06 3.5E-05 0.700 1.000 2 2008 2011
dbSNP: rs878854193
rs878854193
MUTYH
1 1.000 0.120 1 45332573 splice donor variant C/A snv 0.700 1.000 2 2008 2011
dbSNP: rs1553125243
rs1553125243
MUTYH
2 1.000 0.120 1 45331302 frameshift variant T/- del 0.700 1.000 1 2007 2007