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: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2014 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs1216411295
rs1216411295
IL2RA
1 1.000 0.120 10 6025837 missense variant A/T snv 4.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs12765878
rs12765878
STN1
2 0.925 0.160 10 103909864 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs4253211
rs4253211
ERCC6
3 0.882 0.240 10 49470271 missense variant C/G;T snv 7.1E-02; 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs5744455
rs5744455
CD14 ; TMCO6
5 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs748148861
rs748148861
CCR6
2 0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs771176824
rs771176824
CUX1
1 1.000 0.120 7 101916181 missense variant C/A;T snv 0.010 1.000 1 1994 1994
dbSNP: rs777176672
rs777176672
PIK3R3 ; P3R3URF-PIK3R3
1 1.000 0.120 1 46066104 missense variant T/C snv 8.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs865789884
rs865789884
TNFRSF10D
2 0.925 0.120 8 23145778 missense variant G/A;C snv 4.0E-06 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 2009 2009
dbSNP: rs80359601
rs80359601
BRCA2
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1378286181
rs1378286181
TCF3
1 1.000 0.120 19 1632076 missense variant C/G snv 7.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs758417636
rs758417636
TNFRSF1A
1 1.000 0.120 12 6330272 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs202096899
rs202096899
PSIP1
1 1.000 0.120 9 15489993 missense variant C/G;T snv 4.5E-05; 4.5E-06 5.6E-05 0.010 1.000 1 1994 1994
dbSNP: rs142863665
rs142863665
CUX1
1 1.000 0.120 7 102111708 missense variant G/A snv 3.2E-05 1.3E-04 0.010 1.000 1 1994 1994
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0