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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1288422703
rs1288422703
APC
2 5 112767386 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs876660427
rs876660427
APC
4 5 112838608 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1441008398
rs1441008398
APC
4 5 112839334 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 0.500 2 1999 2005
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 0.020 0.500 2 1999 2005
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.770 0.875 8 2003 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 2017
dbSNP: rs6964824
rs6964824
PRKAG2
2 7 151654146 intron variant T/C snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs4725431
rs4725431
PRKAG2
2 7 151776093 intron variant T/C snv 0.19 0.010 1.000 1 2010 2010
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: rs772468040
rs772468040
FLT3
2 13 28057413 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs7987649
rs7987649
FLT1
4 0.925 0.080 13 28320278 intron variant A/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs4771249
rs4771249
FLT1
2 13 28439277 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs587778966
rs587778966
MLH1
3 0.925 0.160 3 36996698 frameshift variant -/C delins 0.010 1.000 1 2015 2015
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs412396
rs412396 		2 20 43657322 downstream gene variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs56848936
rs56848936
SYMPK
11 0.776 0.080 19 45818249 intron variant A/G snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs768824654
rs768824654
MSH2
6 1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 1.000 1 2009 2009