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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2013 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2013 2018
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 0.500 2 2013 2018
dbSNP: rs1805010
rs1805010
IL4R
12 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 0.020 1.000 2 2009 2015
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 1.000 2 2007 2008
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1164376164
rs1164376164
ABCB1
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
16 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
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 1997 1997
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1227230819
rs1227230819
GDNF ; GDNF-AS1
2 0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009