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: rs121913332
rs121913332
APC
5 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs121913333
rs121913333
APC
6 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 0
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2013 2015
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs121918069
rs121918069
TTR
3 0.925 0.200 18 31595152 missense variant T/A;G snv 0.020 1.000 2 2007 2008
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1254176854
rs1254176854
APC
1 1.000 0.120 5 112838544 stop gained G/A;T snv 0.700 0
dbSNP: rs1305971005
rs1305971005
APC
1 1.000 0.120 5 112843551 frameshift variant A/- delins 0.700 0
dbSNP: rs1331131200
rs1331131200
APC
2 0.925 0.200 5 112827976 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
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: rs137854568
rs137854568
APC
5 0.882 0.120 5 112815564 stop gained C/T snv 0.700 0
dbSNP: rs137854569
rs137854569
APC
3 0.882 0.120 5 112815499 stop gained C/G;T snv 0.700 0
dbSNP: rs137854572
rs137854572
APC
4 0.882 0.120 5 112828001 stop gained C/T snv 0.700 0
dbSNP: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 6 1992 2011
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: rs137854580
rs137854580
APC
6 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.720 1.000 2 2000 2012
dbSNP: rs137854582
rs137854582
APC
2 0.925 0.120 5 112837687 stop gained T/A;G snv 0.700 0