Source: BEFREE ×
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: 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: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4771249
rs4771249
FLT1
2 13 28439277 intron variant G/A;C snv 0.010 1.000 1 2014 2014
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: rs861539
rs861539
KLC1 ; XRCC3
103 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1961177
rs1961177
CYP19A1
1 15 51332881 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs112431538
rs112431538
TP53
2 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: rs201744589
rs201744589
TP53
3 0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs879253942
rs879253942
TP53
25 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs12953717
rs12953717
SMAD7
11 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs4939827
rs4939827
SMAD7
16 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2273535
rs2273535
AURKA
37 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2003 2005
dbSNP: rs412396
rs412396 		2 20 43657322 downstream gene variant C/G snv 0.77 0.010 1.000 1 2010 2010