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: 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
dbSNP: rs80359601
rs80359601
BRCA2
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
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: 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: 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: 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: 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: 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: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 < 0.001 1 2006 2006
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: rs2230600
rs2230600
PTPN13
5 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 0.010 1.000 1 2009 2009
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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2009 2009
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2009 2009
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: rs28903090
rs28903090
RAD50
2 0.925 0.120 5 132587981 missense variant G/T snv 1.2E-03 1.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013
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: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 1.000 2 2014 2014
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014
dbSNP: rs28366003
rs28366003
MT2A
10 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 0.010 1.000 1 2014 2014
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: 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