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: rs1057517456
rs1057517456
MUTYH
1 1.000 0.120 1 45331769 frameshift variant T/- del 0.700 0
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.700 0
dbSNP: rs1057517459
rs1057517459
MUTYH
1 1.000 0.120 1 45330558 splice acceptor variant C/T snv 0.700 0
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: 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: rs1060501321
rs1060501321
MUTYH
1 1.000 0.120 1 45331476 stop gained C/A snv 0.700 0
dbSNP: rs1060501324
rs1060501324
MUTYH
1 1.000 0.120 1 45331800 stop gained C/T snv 0.700 0
dbSNP: rs1060501325
rs1060501325
MUTYH
1 1.000 0.120 1 45331462 stop gained C/T snv 0.700 0
dbSNP: rs1060501333
rs1060501333
MUTYH
1 1.000 0.120 1 45332164 splice donor variant A/C snv 0.700 0
dbSNP: rs1060501335
rs1060501335
MUTYH
2 0.925 0.120 1 45331684 missense variant A/G snv 0.800 0
dbSNP: rs1060501336
rs1060501336
MUTYH
1 1.000 0.120 1 45334446 frameshift variant T/- delins 0.700 0
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: rs1064793197
rs1064793197
MUTYH
1 1.000 0.120 1 45332458 frameshift variant GTGCTA/AGCAGCTG delins 0.700 0
dbSNP: rs1064795480
rs1064795480
MUTYH
1 1.000 0.120 1 45331422 frameshift variant C/- delins 0.700 0
dbSNP: rs1064796630
rs1064796630
MUTYH
1 1.000 0.120 1 45332576 stop gained G/A snv 7.0E-06 0.700 0
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: 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: rs1338038953
rs1338038953
MUTYH
1 1.000 0.120 1 45332310 stop gained C/T snv 7.0E-06 0.700 0
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: 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: 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: 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 30 2002 2017
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: 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: rs146331482
rs146331482
MUTYH
1 1.000 0.120 1 45331197 frameshift variant G/-;GGG delins 0.700 0