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: 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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2012 2012
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.917 12 2013 2019
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.040 1.000 4 2013 2019
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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2015
dbSNP: rs12289961
rs12289961
OR10Q2P
1 11 58292720 non coding transcript exon variant C/T snv 0.28 0.800 1.000 1 2013 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
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: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs2621416
rs2621416 		4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs2647045
rs2647045 		1 6 32700323 TF binding site variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs273429
rs273429
LOC105375763
1 8 131467654 intergenic variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs4530903
rs4530903 		1 6 32614112 intergenic variant C/T snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs6773854
rs6773854
LOC105374265
2 1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs707824
rs707824
LOC101928354
3 0.925 0.120 6 14636732 intergenic variant T/C snv 0.74 0.810 1.000 1 2013 2013
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
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: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs948562
rs948562
ZFP91 ; ZFP91-CNTF
1 11 58580292 intron variant A/G snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2466571
rs2466571
CD46
3 0.925 0.120 1 207766701 intron variant G/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs867114783
rs867114783
TP53
6 17 7675109 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.010 1.000 1 2015 2015