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: rs121908380
rs121908380
MUTYH
4 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
dbSNP: rs138089183
rs138089183
MUTYH
2 0.925 0.120 1 45332174 missense variant G/A snv 4.5E-04 5.0E-04 0.700 1.000 7 2013 2017
dbSNP: rs144079536
rs144079536
MUTYH
1 1.000 0.120 1 45331485 missense variant G/C;T snv 4.0E-06; 5.9E-04 0.700 1.000 7 2013 2017
dbSNP: rs587780749
rs587780749
MUTYH
5 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: rs730881832
rs730881832
MUTYH
3 0.925 0.120 1 45333168 missense variant A/T snv 4.0E-06 0.700 1.000 7 2013 2017
dbSNP: rs750592289
rs750592289
MUTYH
2 0.925 0.160 1 45332786 missense variant G/A snv 8.0E-06 0.700 1.000 7 2013 2017
dbSNP: rs765123255
rs765123255
MUTYH
5 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: rs767747402
rs767747402
MUTYH
1 1.000 0.120 1 45331228 missense variant G/A;T snv 1.6E-05; 1.2E-05 0.700 1.000 7 2013 2017
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