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: rs2014486
rs2014486
MUC5B
2 1.000 0.040 11 1237573 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2029298
rs2029298
DDB2
3 0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2008 2008
dbSNP: rs254942
rs254942
ERCC4
3 0.882 0.080 16 13932150 splice region variant G/A;C;T snv 0.97; 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2011 2011
dbSNP: rs326222
rs326222
DDB2
3 0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
DDB2
3 0.882 0.080 11 47233766 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3789210
rs3789210
PGC
3 0.882 0.080 6 41743584 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3805246
rs3805246
GAB1
3 0.882 0.120 4 143382955 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs3814896
rs3814896
TFF2 ; LOC105372815
3 0.882 0.080 21 42351602 upstream gene variant A/G snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs4711690
rs4711690
PGC
3 0.882 0.080 6 41741200 missense variant C/G snv 0.19 0.20 0.010 1.000 1 2013 2013
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2015 2015
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs61516247
rs61516247
LINC00951 ; TDRG1
1 1.000 0.040 6 40344500 non coding transcript exon variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs629367
rs629367
MIR100HG ; MIRLET7A2
11 0.776 0.200 11 122146306 intron variant C/A snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs6498486
rs6498486
ERCC4
8 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs6672420
rs6672420
RUNX3 ; LOC105376878
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs6878265
rs6878265 		2 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs6912200
rs6912200
PGC
3 0.925 0.080 6 41750170 intron variant C/T snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs6939861
rs6939861
TFEB ; MIR10398
3 0.882 0.080 6 41735303 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs7481521
rs7481521
MUC6
1 1.000 0.040 11 1027811 missense variant C/T snv 0.50 0.47 0.010 1.000 1 2012 2012
dbSNP: rs7521584
rs7521584
MIR429
3 1.000 0.040 1 1168578 upstream gene variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2009 2009