Source: BEFREE ×
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: rs11046966
rs11046966 		1 1.000 0.040 12 23524758 downstream gene variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs11134242
rs11134242
ADCY2
1 1.000 0.040 5 7563902 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs111720447
rs111720447 		1 1.000 0.040 7 69238318 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1129055
rs1129055
CD86
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1130866
rs1130866
SFTPB
8 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.030 0.667 3 2005 2014
dbSNP: rs1136450
rs1136450
SFTPA1
1 1.000 0.040 10 79611973 missense variant C/G snv 0.49 0.53 0.010 1.000 1 2010 2010
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.020 1.000 2 2010 2012
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
110 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2011 2016
dbSNP: rs11640522
rs11640522
CDH13
1 1.000 0.040 16 82766763 intron variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs11640875
rs11640875
CDH13 ; MIR8058
1 1.000 0.040 16 82687819 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11646011
rs11646011
CDH13
1 1.000 0.040 16 82666121 intron variant T/C snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs11646643
rs11646643
MMP2
1 1.000 0.040 16 55484965 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs11646849
rs11646849
CDH13 ; LOC101928446
1 1.000 0.040 16 82783646 intron variant G/A snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs11668247
rs11668247
LOC105372412
1 1.000 0.040 19 43690210 intron variant C/T snv 0.34 0.010 < 0.001 1 2009 2009
dbSNP: rs1176147476
rs1176147476
HMOX1
1 1.000 0.040 22 35386688 missense variant G/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs11779254
rs11779254
CSMD1
2 0.925 0.080 8 4391552 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11860282
rs11860282
CDH13 ; LOC101928446
1 1.000 0.040 16 82800222 intron variant T/C snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs11938704
rs11938704
LOC105377462
1 1.000 0.040 4 144522218 intron variant A/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1205
rs1205
CRP
45 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs12068264
rs12068264
CTSS
1 1.000 0.040 1 150754853 intron variant C/T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs12150220
rs12150220
NLRP1
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2019 2019
dbSNP: rs121917864
rs121917864
TLR2
30 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 < 0.001 1 2009 2009