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: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.040 1.000 4 2010 2015
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 0.500 4 2011 2014
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2010 2015
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 0.333 3 2013 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2009 2012
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2003 2015
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2005 2014
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1058172
rs1058172
CYP2D6 ; NDUFA6-DT
4 0.882 0.080 22 42127526 missense variant C/G;T snv 4.4E-06; 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 < 0.001 1 2014 2014
dbSNP: rs1183646267
rs1183646267
ATM
2 0.925 0.040 11 108281026 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1208
rs1208
NAT2
8 0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1629816
rs1629816
SEC13 ; GHRL ; GHRLOS
4 0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1667255
rs1667255 		3 0.925 0.040 18 31607316 intergenic variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs16943176
rs16943176
RAD51C ; TEX14
2 0.925 0.040 17 58692526 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs35385902
rs35385902
ADH1B ; ADH1C
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.010 1.000 1 2010 2010