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: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
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: 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: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2301756
rs2301756
PTPN11
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.020 1.000 2 2009 2009
dbSNP: rs12423190
rs12423190
PTPN11
1 1.000 0.040 12 112471536 intron variant T/C snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2013 2013
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: rs10983755
rs10983755 		7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs11536878
rs11536878
TLR4
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 < 0.001 1 2014 2014
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: rs6878265
rs6878265 		2 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 0.010 1.000 1 2013 2013
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: 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: rs1440526066
rs1440526066
IL4 ; LOC105379176
1 1.000 0.040 5 132679827 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2017 2017
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: 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: rs2920283
rs2920283
PSCA ; JRK
2 0.925 0.040 8 142675619 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.720 1.000 3 2013 2019
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: 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: rs10505799
rs10505799 		2 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 0.010 1.000 1 2013 2013