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: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 49 2009 2019
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.900 0.952 21 2009 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 19 2011 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.900 0.941 17 2009 2020
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 1.000 11 2005 2017
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.090 0.889 9 2012 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.625 8 2008 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.571 7 2008 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 0.070 0.857 7 2014 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 0.571 7 2008 2018
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.840 1.000 6 2009 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.050 0.800 5 2016 2020
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.500 4 2012 2017
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.710 1.000 3 2009 2018
dbSNP: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.030 1.000 3 2015 2017
dbSNP: rs2276466
rs2276466
ERCC4
15 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 0.030 1.000 3 2013 2014
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2008 2016
dbSNP: rs11706832
rs11706832
LRIG1
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.710 1.000 2 2017 2018
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 2 2011 2012
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2013 2015
dbSNP: rs2065134
rs2065134
SLC7A7
1 1.000 0.040 14 22788980 intron variant T/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 0.500 2 2015 2016