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: rs10462020
rs10462020
PER3
2 0.925 0.160 1 7820623 missense variant T/G snv 0.17 0.16 0.010 1.000 1 2015 2015
dbSNP: rs10484561
rs10484561 		6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.010 1.000 1 2011 2011
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: rs11045879
rs11045879
SLCO1B1
4 1.000 0.120 12 21229685 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2016 2016
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: 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 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
dbSNP: rs1239470707
rs1239470707
PPARG
2 0.925 0.120 3 12416785 missense variant C/A snv 0.010 1.000 1 2012 2012