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: rs774847203
rs774847203
APC
1 1.000 0.120 5 112840425 stop gained C/G;T snv 8.0E-06 0.700 1.000 2 2003 2010
dbSNP: rs775126020
rs775126020
APC
3 0.925 0.120 5 112819026 stop gained C/G;T snv 0.700 1.000 2 2000 2005
dbSNP: rs1816769
rs1816769
APC
1 1.000 0.120 5 112774082 intron variant G/C snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs222836
rs222836
DVL2
2 0.925 0.120 17 7229843 synonymous variant G/A snv 0.51 0.47 0.010 1.000 1 2019 2019
dbSNP: rs3846716
rs3846716
APC
1 1.000 0.120 5 112723897 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs397515732
rs397515732
APC
2 0.925 0.120 5 112835123 frameshift variant -/A delins 0.700 1.000 1 1997 1997
dbSNP: rs559510809
rs559510809
APC
3 0.882 0.120 5 112819294 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs587780607
rs587780607
APC
1 1.000 0.120 5 112815496 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs587783030
rs587783030
APC
2 1.000 0.120 5 112837697 frameshift variant G/-;GG delins 0.700 1.000 1 2005 2005
dbSNP: rs587783033
rs587783033
APC
1 1.000 0.120 5 112839404 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs727504420
rs727504420
APC
1 1.000 0.120 5 112839848 frameshift variant A/- delins 0.700 1.000 1 2002 2002
dbSNP: rs770649674
rs770649674
APC
6 0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs773952596
rs773952596
APC
1 1.000 0.120 5 112767344 stop gained G/T snv 2.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs773985321
rs773985321
APC
1 1.000 0.120 5 112837671 stop gained A/G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs863225335
rs863225335
APC
2 1.000 0.120 5 112767269 stop gained G/T snv 0.010 1.000 1 1998 1998
dbSNP: rs863225371
rs863225371
APC
1 1.000 0.120 5 112792474 frameshift variant A/- delins 0.700 1.000 1 2005 2005
dbSNP: rs876659661
rs876659661
APC
1 1.000 0.120 5 112840786 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs9921222
rs9921222
AXIN1
5 0.925 0.120 16 325782 intron variant C/T snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs1019221239
rs1019221239
APC
3 0.925 0.120 5 112835093 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1060503288
rs1060503288
APC
1 1.000 0.120 5 112839999 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1060503323
rs1060503323
APC
3 0.925 0.120 5 112780782 splice region variant G/A snv 0.700 0
dbSNP: rs1060503333
rs1060503333
APC
3 0.925 0.120 5 112821953 stop gained C/A;G snv 0.700 0
dbSNP: rs1060503366
rs1060503366
APC
2 0.925 0.120 5 112819276 frameshift variant -/T delins 0.700 0
dbSNP: rs1064793716
rs1064793716
APC
2 0.925 0.120 5 112835163 splice region variant C/T snv 0.700 0
dbSNP: rs1064795228
rs1064795228
APC
1 1.000 0.120 5 112839048 stop gained C/G;T snv 0.700 0