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: rs61756766
rs61756766
TNFRSF13C
9 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
dbSNP: rs867830180
rs867830180
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
3 0.925 0.120 20 63695147 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2004 2011
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2009 2009
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2009 2009
dbSNP: rs2304240
rs2304240
ICAM3
4 0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 0.010 1.000 1 2011 2011
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 2 2013 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs1555525126
rs1555525126
TP53
3 0.925 0.120 17 7673749 missense variant T/C snv 0.010 1.000 1 2001 2001
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 2017 2017
dbSNP: rs563378859
rs563378859
TP53
8 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs867114783
rs867114783
TP53
6 17 7675109 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2012 2012
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913503
rs121913503
IDH2
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1353428252
rs1353428252
IDH2
5 0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1802710
rs1802710
DLK1
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2004 2004
dbSNP: rs708486
rs708486
PTGDR
3 0.925 0.120 14 52274253 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs751837
rs751837
CDC42BPB
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs2274084
rs2274084
GJB2
6 0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs867329357
rs867329357
ERCC5 ; BIVM-ERCC5
3 0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2013 2013