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: 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: rs1984112
rs1984112
CD36
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2018 2018
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: rs2229992
rs2229992
APC
6 0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 0.010 1.000 1 2011 2011
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.010 1.000 1 1995 1995
dbSNP: rs374853436
rs374853436
APC
2 0.925 0.200 5 112843972 missense variant G/A snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs3838646
rs3838646
TTTY14
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.010 1.000 1 2015 2015
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: rs41115
rs41115
APC
3 0.882 0.160 5 112840073 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2010 2010
dbSNP: rs454886
rs454886
APC
10 0.763 0.280 5 112810420 intron variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs465899
rs465899
APC
3 0.882 0.160 5 112841474 synonymous variant G/A snv 0.65 0.60 0.010 1.000 1 2005 2005
dbSNP: rs52812045
rs52812045
TTTY14
7 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
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: 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: rs56187033
rs56187033
BRCA1
4 0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04 0.010 1.000 1 2018 2018
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: 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: rs7224837
rs7224837
AXIN2
2 0.925 0.200 17 65532005 intron variant G/A snv 0.89 0.010 1.000 1 2019 2019
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: rs730882128
rs730882128
APC
2 0.925 0.200 5 112840500 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs746303115
rs746303115
TBP
3 0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs749782426
rs749782426
APC
2 0.925 0.200 5 112840377 missense variant G/C;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2008 2008