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: rs121913277
rs121913277
PIK3CA
4 0.925 0.280 3 179234302 missense variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs138551214
rs138551214
EPHB2
4 0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs121913332
rs121913332
APC
5 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 12 1992 2015
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
5 0.925 0.120 5 68295269 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519862
rs1057519862
ERBB2
5 0.851 0.160 17 39723405 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
5 0.882 0.160 12 132676599 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519952
rs1057519952
RHOA
5 0.882 0.160 3 49375577 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
XPO1
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913344
rs121913344
TP53
5 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519725
rs1057519725
KRAS
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.700 1.000 8 2005 2011
dbSNP: rs121913333
rs121913333
APC
6 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 1.000 4 1992 2014
dbSNP: rs1057519732
rs1057519732
MAP2K1
6 0.827 0.160 15 66436824 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
6 0.827 0.160 3 179199141 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
SMAD4
6 0.827 0.160 18 51067035 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10808555
rs10808555
POU5F1B ; CASC8 ; PCAT1
6 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs397516792
rs397516792
MAP2K1
6 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs764918809
rs764918809
MDM2
6 0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs770248150
rs770248150
KRAS
7 0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 0.700 1.000 9 2005 2016
dbSNP: rs121913361
rs121913361
BRAF
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 7 2002 2014
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
7 0.807 0.280 18 51067036 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
PTPN11
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2010 2010