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: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs235768
rs235768
BMP2
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs553668
rs553668
ADRA2A
8 0.807 0.160 10 111079821 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs7034162
rs7034162
NFIB
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.020 1.000 2 2015 2019
dbSNP: rs171140
rs171140
ERCC2
6 0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64 0.010 1.000 1 2018 2018
dbSNP: rs2236947
rs2236947
RASSF1
3 0.882 0.040 3 50334001 intron variant C/A snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs7958904
rs7958904
HOTAIR
15 0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.030 0.667 3 2017 2018
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 2007 2012
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs764146326
rs764146326
TP53
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs16948627
rs16948627
ITGA3
4 0.882 0.040 17 50063432 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2012 2012
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2015 2015
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs2372536
rs2372536
ATIC
5 0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25 0.010 < 0.001 1 2017 2017
dbSNP: rs3821204
rs3821204
IL18R1 ; IL1RL1
6 0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2018 2018