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: rs2266780
rs2266780
FMO3
9 0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14 0.030 1.000 3 2004 2007
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 1.000 3 2003 2008
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.020 1.000 2 2003 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs730881833
rs730881833
MUTYH
6 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs55778204
rs55778204
MSH2
2 0.925 0.160 2 47470993 missense variant A/G snv 2.3E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63750934
rs63750934
MSH2
5 0.882 0.160 2 47414368 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs137854567
rs137854567
APC
3 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.700 1.000 20 1991 2017
dbSNP: rs371113837
rs371113837
APC
1 1.000 0.120 5 112839469 missense variant C/T snv 8.8E-05 1.0E-04 0.700 1.000 20 1991 2017
dbSNP: rs863225349
rs863225349
APC
2 1.000 0.120 5 112839531 missense variant A/G snv 0.700 1.000 20 1991 2017
dbSNP: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.710 1.000 16 1992 2009
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.710 1.000 13 1992 2018
dbSNP: rs397515734
rs397515734
APC
7 0.827 0.120 5 112792494 stop gained C/T snv 0.710 1.000 12 1992 2014
dbSNP: rs139196838
rs139196838
APC
1 1.000 0.120 5 112767263 missense variant C/A;T snv 4.0E-06; 3.9E-04 0.700 1.000 11 1991 2016
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained C/G;T snv 0.700 1.000 10 1992 2016
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.070 1.000 7 2001 2019
dbSNP: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 6 1992 2011
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.060 1.000 6 1998 2015
dbSNP: rs587782557
rs587782557
APC
3 0.925 0.120 5 112775632 frameshift variant AT/- del 0.700 1.000 6 1993 2013
dbSNP: rs587783035
rs587783035
APC
2 0.925 0.120 5 112834949 splice acceptor variant A/G;T snv 0.700 1.000 6 1997 2013
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.040 1.000 4 2007 2015