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: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.020 1.000 2 2016 2018
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2006 2008
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.710 1.000 2 2012 2019
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.020 1.000 2 2009 2013
dbSNP: rs2977536
rs2977536
CCN4
4 0.851 0.080 8 133207034 intron variant G/C snv 0.36 0.020 1.000 2 2014 2015
dbSNP: rs3212948
rs3212948
ERCC1
10 0.776 0.160 19 45421104 intron variant G/C snv 0.53 0.020 0.500 2 2007 2014
dbSNP: rs3212961
rs3212961
ERCC1
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.020 1.000 2 2011 2014
dbSNP: rs3730931
rs3730931
LIG1 ; LOC107985293
3 0.882 0.080 19 48143984 intron variant T/C snv 0.12 0.15 0.020 0.500 2 2008 2015
dbSNP: rs439132
rs439132
LIG1
3 0.882 0.080 19 48165657 intron variant T/C snv 5.6E-02 9.6E-02 0.020 0.500 2 2008 2015
dbSNP: rs451360
rs451360
CLPTM1L
5 0.827 0.200 5 1319565 intron variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs56113850
rs56113850
CYP2A6
10 0.807 0.080 19 40847202 intron variant T/C snv 0.52 0.710 1.000 2 2016 2017
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 2 2016 2017
dbSNP: rs6413432
rs6413432
CYP2E1
5 0.827 0.120 10 133535040 intron variant T/A snv 9.9E-02 0.020 1.000 2 2012 2015
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.020 1.000 2 2013 2013
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2009 2013
dbSNP: rs722864
rs722864
MAP3K20
3 0.882 0.080 2 173118476 intron variant A/C;G;T snv 0.710 1.000 2 2017 2018
dbSNP: rs763317
rs763317
EGFR
3 0.882 0.080 7 55027504 intron variant A/G snv 0.59 0.020 1.000 2 2009 2015
dbSNP: rs7811989
rs7811989
AHR
3 0.882 0.080 7 17331739 intron variant A/G snv 0.76 0.020 1.000 2 2009 2018
dbSNP: rs8042374
rs8042374
CHRNA3
10 0.807 0.200 15 78615690 intron variant A/G snv 0.29 0.710 1.000 2 2008 2011
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.020 1.000 2 2018 2018
dbSNP: rs928508
rs928508
NFYC ; MIR30C1
4 0.851 0.080 1 40757742 intron variant G/A;T snv 0.50 0.020 0.500 2 2016 2018
dbSNP: rs9387478
rs9387478
DCBLD1
4 0.851 0.080 6 117465017 intron variant C/A;T snv 0.710 1.000 2 2012 2016
dbSNP: rs1002481
rs1002481
REV3L ; MFSD4B
3 0.882 0.080 6 111390819 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10040363
rs10040363
XRCC4
3 0.882 0.080 5 83177826 intron variant A/G snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs10054203
rs10054203
TERT
3 0.882 0.080 5 1279849 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019