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: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 1.000 1 2016 2016
dbSNP: rs750802459
rs750802459
CASP3
2 1.000 0.120 4 184635342 frameshift variant TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- delins 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs4987853
rs4987853
BCL2
1 1.000 0.120 18 63126422 3 prime UTR variant T/C;G snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs587780073
rs587780073
TP53
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
TP53
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1801018
rs1801018
BCL2
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2017 2017
dbSNP: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs869320694
rs869320694
FGFR1
16 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786203071
rs786203071
TP53
9 0.776 0.240 17 7675181 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519985
rs1057519985
TP53
16 0.724 0.360 17 7673763 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016