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: rs1064793236
rs1064793236
PMS2
1 7 5986802 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1219568637
rs1219568637
EGFR
2 7 55143404 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1288422703
rs1288422703
APC
2 5 112767386 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140516819
rs140516819
EGFR
4 7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 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: rs17280262
rs17280262 		1 14 96587587 upstream gene variant C/T snv 5.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs1961177
rs1961177
CYP19A1
1 15 51332881 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs35918369
rs35918369
EGFR
4 7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs412396
rs412396 		2 20 43657322 downstream gene variant C/G snv 0.77 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: rs4771249
rs4771249
FLT1
2 13 28439277 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4812219
rs4812219 		1 20 60847915 intergenic variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs587780053
rs587780053
PMS2
1 7 5977698 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs6964824
rs6964824
PRKAG2
2 7 151654146 intron variant T/C snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs730881913
rs730881913
PMS2
1 7 6004023 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
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: rs779512948
rs779512948
PMS2
1 7 5989800 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs864622553
rs864622553
PMS2
1 7 5987540 missense variant C/G snv 1.2E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs876660427
rs876660427
APC
4 5 112838608 missense variant C/T snv 0.010 1.000 1 2017 2017
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: 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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.770 0.875 8 2003 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2008 2008
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