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: rs4789223
rs4789223
RECQL5 ; SMIM6
4 0.851 0.120 17 75645819 intron variant G/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs6973569
rs6973569
NPSR1-AS1
5 0.851 0.080 7 34583412 intron variant G/A snv 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs7023329
rs7023329
MTAP
9 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs7025417
rs7025417
IL33 ; LOC107987046
11 0.752 0.280 9 6240084 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs7646409
rs7646409
PIK3CA
4 0.882 0.040 3 179182405 intron variant T/C snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs8103851
rs8103851
PRKCG
5 0.851 0.040 19 53894400 intron variant C/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs9866361
rs9866361
PIK3CA
3 0.882 0.040 3 179190061 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs998074
rs998074
IGF2R
3 0.882 0.040 6 160047351 intron variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs10208273
rs10208273 		3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.710 1.000 2 2013 2014
dbSNP: rs231755
rs231755 		3 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs8103992
rs8103992 		3 0.882 0.040 19 19554834 regulatory region variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
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: rs886041906
rs886041906
CTLA4
6 0.882 0.200 2 203868002 stop gained G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs122445099
rs122445099
ATRX
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs200917541
rs200917541
CHEK2
5 0.851 0.200 22 28725270 stop gained G/A;T snv 0.700 0
dbSNP: rs587781705
rs587781705
CHEK2
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
6 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.700 0
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2007 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 0.750 4 2015 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.020 1.000 2 2013 2014
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2009 2011