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: rs6513497
rs6513497
MIR646HG ; MIR646
1 1.000 0.080 20 60308547 mature miRNA variant T/A;G snv 4.0E-06; 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.060 1.000 6 2002 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 1.000 4 2002 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.030 1.000 3 2002 2009
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 0.333 3 2002 2009
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2007 2008
dbSNP: rs1009316
rs1009316
BAX
1 1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs12983273
rs12983273
MIR373 ; MIR371B
3 0.882 0.120 19 53788578 upstream gene variant C/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1618536
rs1618536
ERCC2
1 1.000 0.080 19 45368348 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2291668
rs2291668
TNFSF14
1 1.000 0.080 19 6669923 synonymous variant G/A snv 0.19 0.16 0.010 1.000 1 2010 2010
dbSNP: rs2304186
rs2304186
AKT2
2 0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2016 2016
dbSNP: rs238415
rs238415
ERCC2
4 0.851 0.120 19 45353977 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
13 0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 0.010 1.000 1 2006 2006
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs3916874
rs3916874
ERCC2
4 0.851 0.120 19 45353668 intron variant C/A;G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs7254617
rs7254617
AKT2
5 0.882 0.120 19 40285605 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
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 < 0.001 1 2002 2002
dbSNP: rs764058037
rs764058037
AKT2
1 1.000 0.080 19 40241984 missense variant C/A;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1050631
rs1050631
SLC39A6
4 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.020 1.000 2 2013 2019
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 < 0.001 1 2017 2017
dbSNP: rs1805034
rs1805034
TNFRSF11A
12 0.742 0.360 18 62360008 missense variant C/T snv 0.54 0.56 0.010 1.000 1 2014 2014
dbSNP: rs2279115
rs2279115
BCL2
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015