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: 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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.972 36 1992 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
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: 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: 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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
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: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2007 2007
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
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.710 1.000 13 1992 2018
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
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: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
dbSNP: rs1761667
rs1761667
CD36
12 0.752 0.320 7 80615623 intron variant G/A snv 0.49 0.010 1.000 1 2018 2018
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: rs878859113
rs878859113
CD24
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.730 1.000 3 2000 2016
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019