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: rs3831317
rs3831317
CHIT1
2 0.925 0.080 1 203217822 stop gained -/AGACCATGGCCCCGCCCAGTCCCT delins 0.010 1.000 1 2016 2016
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 0.500 2 2014 2016
dbSNP: rs2069825
rs2069825
IL6 ; STEAP1B ; IL6-AS1
2 1.000 0.040 7 22725718 non coding transcript exon variant -/CC delins 6.7E-05 0.010 1.000 1 2011 2011
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: rs12979270
rs12979270
CYP2B6
1 1.000 0.040 19 41018226 3 prime UTR variant A/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1891385
rs1891385
IL33
2 0.925 0.120 9 6219845 intron variant A/C snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs2234694
rs2234694
SOD1
3 0.882 0.240 21 31666552 intron variant A/C snv 3.6E-02 3.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs3995090
rs3995090
HTR4 ; LOC107986462
1 1.000 0.040 5 148466252 intron variant A/C snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs56184183
rs56184183
MMP12
1 1.000 0.040 11 102863081 3 prime UTR variant A/C snv 1.1E-03 1.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs6481619
rs6481619
SVIL
1 1.000 0.040 10 29694025 intron variant A/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs8003379
rs8003379
MTHFD1
3 0.882 0.160 14 64406881 intron variant A/C snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs9554314
rs9554314
FLT1
4 0.851 0.080 13 28301652 3 prime UTR variant A/C snv 0.010 < 0.001 1 2014 2014
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: rs56036015
rs56036015
TNF
1 1.000 0.040 6 31575287 upstream gene variant A/C;G snv 7.0E-06; 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs4713916
rs4713916
FKBP5
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7041
rs7041
GC
61 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs2228145
rs2228145
IL6R
48 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.050 1.000 5 2004 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
70 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.040 1.000 4 2004 2017
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.740 1.000 4 2011 2019
dbSNP: rs13118928
rs13118928 		3 0.925 0.040 4 144565237 intron variant A/G snv 0.33 0.830 1.000 3 2010 2017
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
47 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.030 0.667 3 2010 2017
dbSNP: rs16865421
rs16865421
SERPINE2
1 1.000 0.040 2 223993376 intron variant A/G snv 0.10 0.020 1.000 2 2009 2019
dbSNP: rs181206
rs181206
IL27
14 0.742 0.440 16 28502082 missense variant A/G snv 0.28 0.24 0.020 1.000 2 2016 2016