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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.730 0.750 4 2013 2019
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.030 1.000 3 2011 2014
dbSNP: rs7170924
rs7170924
IL16
4 0.851 0.080 15 81290798 intron variant G/T snv 0.30 0.030 1.000 3 2016 2017
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.020 1.000 2 2014 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.020 1.000 2 2008 2018
dbSNP: rs12686377
rs12686377
SLC31A1 ; LOC107987119
1 1.000 0.080 9 113241753 intron variant C/A;T snv 0.020 1.000 2 2012 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 1.000 2 2015 2019
dbSNP: rs1881457
rs1881457
IL13 ; TH2LCRR
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.020 1.000 2 2017 2017
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2019
dbSNP: rs3835
rs3835
XRCC5
4 0.882 0.120 2 216201914 intron variant G/A snv 0.21 0.020 1.000 2 2009 2012
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 2012 2013
dbSNP: rs7086803
rs7086803
VTI1A
9 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.710 1.000 2 2015 2019
dbSNP: rs7897947
rs7897947
NFKB2
1 1.000 0.080 10 102397954 intron variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.23 0.020 1.000 2 2018 2019
dbSNP: rs1001581
rs1001581
XRCC1
1 1.000 0.080 19 43561236 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs10023113
rs10023113
CAMK2D
1 1.000 0.080 4 113625548 intron variant A/G snv 0.18 0.710 1.000 1 2015 2015
dbSNP: rs1005165
rs1005165
PPP1R13L ; CD3EAP
1 1.000 0.080 19 45405792 intron variant C/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1012477
rs1012477
PER3
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1077424
rs1077424
DAB1
1 1.000 0.080 1 57344632 intron variant G/C snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs10981694
rs10981694
SLC31A1 ; LOC107987119
1 1.000 0.080 9 113224129 intron variant T/G snv 8.7E-02 0.010 1.000 1 2012 2012