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: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 < 0.001 1 2008 2008
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.040 1.000 4 2009 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2009 2019
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2009 2017
dbSNP: rs266085
rs266085
CXCL12
5 0.851 0.200 10 44378805 intron variant C/T snv 0.32 0.020 1.000 2 2009 2015
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2009 2012
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2009 2017
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2009 2009
dbSNP: rs17885289
rs17885289
CXCL12
3 0.882 0.080 10 44386212 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2009 2009
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2009 2009
dbSNP: rs266093
rs266093
CXCL12
3 0.882 0.080 10 44370760 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2009 2009
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 2009 2009
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.040 1.000 4 2010 2017
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 1.000 2 2010 2016
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs13706
rs13706
CDC6
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
dbSNP: rs2232641
rs2232641
LIG4
4 0.851 0.160 13 108209297 missense variant T/C snv 1.5E-03 5.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs2566
rs2566
LAMB3
6 0.882 0.080 1 209615169 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010