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: rs1057519803
rs1057519803
ERBB3
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
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: 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: rs112431538
rs112431538
TP53
4 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912665
rs121912665
TP53
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2013 2013
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