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: rs587782228
rs587782228
MUTYH
4 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 0.800 1.000 29 2002 2017
dbSNP: rs768553551
rs768553551
MUTYH
1 1.000 0.120 1 45332617 missense variant C/T snv 8.0E-06 0.700 1.000 22 2002 2017
dbSNP: rs769237459
rs769237459
MUTYH
2 1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06 0.800 1.000 20 2002 2017
dbSNP: rs754155145
rs754155145
MUTYH
4 0.925 0.120 1 45332773 missense variant C/A;T snv 4.0E-06 0.700 1.000 15 2002 2016
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 0.800 1.000 14 2004 2017
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: 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: 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: 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: 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: 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: 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: rs730881833
rs730881833
MUTYH
6 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: rs878854186
rs878854186
MUTYH
1 1.000 0.120 1 45329404 frameshift variant T/- del 0.700 1.000 4 2001 2015
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: 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: rs1553126848
rs1553126848
MUTYH
1 1.000 0.120 1 45331801 frameshift variant GCTCCGAGGGAGGCAGGCACAGG/- delins 0.700 1.000 2 2001 2015