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: rs12441998
rs12441998
CHRNB4
3 0.925 0.080 15 78637030 intron variant G/A snv 0.63 0.700 1.000 2 2009 2012
dbSNP: rs12594247
rs12594247
CHRNB4
3 0.925 0.080 15 78654291 intron variant C/T snv 0.14 0.700 1.000 2 2008 2012
dbSNP: rs13009079
rs13009079
CIR1 ; SCRN3
3 0.882 0.080 2 174396420 intron variant T/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs1316971
rs1316971
CHRNB4
3 0.925 0.080 15 78638168 intron variant A/G;T snv 0.62 0.700 1.000 2 2009 2012
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs156641
rs156641
LIG1
3 0.882 0.080 19 48128151 intron variant C/T snv 0.29 0.020 0.500 2 2008 2015
dbSNP: rs17728461
rs17728461
HORMAD2 ; LOC105372988
9 0.776 0.120 22 30202563 intron variant C/G snv 0.25 0.720 1.000 2 2011 2015
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 1.000 2 2012 2019
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.020 0.500 2 2018 2018
dbSNP: rs2066826
rs2066826
PTGS2
4 0.851 0.160 1 186676795 intron variant C/T snv 0.14 0.19 0.020 1.000 2 2010 2015
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 0.500 2 2009 2011
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: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.700 1.000 2 2009 2012
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: rs2734986
rs2734986
LOC105375010
5 0.827 0.160 6 29850791 intron variant T/C snv 0.10 0.700 1.000 2 2009 2012
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: rs3129791
rs3129791
HCG15
5 0.827 0.280 6 28986516 intron variant G/A snv 5.3E-02 0.700 1.000 2 2009 2012
dbSNP: rs3130380
rs3130380
HCG18 ; HCG17
10 0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02 0.700 1.000 2 2009 2012
dbSNP: rs3132610
rs3132610
ABCF1
6 0.807 0.280 6 30576624 intron variant A/G snv 7.4E-02 0.700 1.000 2 2009 2012
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
6 0.807 0.320 6 29978172 intron variant G/A;T snv 0.700 1.000 2 2009 2012
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