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: rs2304277
rs2304277
OGG1 ; CAMK1
8 0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs79722116
rs79722116
FANCC ; AOPEP ; LOC107987102
3 0.882 0.120 9 95107192 synonymous variant C/T snv 4.6E-04 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs372000848
rs372000848
MRE11
1 1.000 0.120 11 94470575 missense variant G/A snv 5.2E-05 7.7E-05 0.700 0
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs200389141
rs200389141
BLM
11 0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs2229109
rs2229109
ABCB1
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs35068177
rs35068177
ABCB1
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs2660753
rs2660753 		9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
dbSNP: rs6886
rs6886
CAPG
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs11782652
rs11782652
CHMP4C
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs1046428
rs1046428
GSTZ1
8 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 0.010 1.000 1 2010 2010
dbSNP: rs3177427
rs3177427
GSTZ1
5 0.827 0.160 14 77326864 stop gained G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2287497
rs2287497
TP53 ; WRAP53
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2287498
rs2287498
TP53 ; WRAP53
4 0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 1.000 4 2012 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2015
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1131691022
rs1131691022
TP53
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013