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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs2734705
rs2734705
CLCA1
2 0.925 0.120 1 86486641 missense variant A/G snv 0.86 0.87 0.010 1.000 1 2010 2010
dbSNP: rs373533
rs373533
ADGRE1 ; LOC105372256
2 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 0.010 1.000 1 2013 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs2688482
rs2688482
MUC4
1 1.000 0.120 3 195802247 intron variant T/C snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs546131
rs546131
LOC102723568
1 1.000 0.120 11 34830213 regulatory region variant G/C snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.100 1.000 10 1992 2015
dbSNP: rs9300298
rs9300298
ADIPOR2
1 1.000 0.120 12 1757038 intron variant T/A snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs7929679
rs7929679
LOC102723568
2 0.925 0.120 11 34784302 regulatory region variant A/G snv 0.54 0.700 1.000 1 2015 2015
dbSNP: rs2228607
rs2228607
STX1A
2 0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53 0.010 1.000 1 2013 2013
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2013 2013
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.020 1.000 2 2016 2017
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2012 2018
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 1.000 1 2010 2010
dbSNP: rs880633
rs880633
CHI3L1
2 0.925 0.160 1 203183673 missense variant T/C snv 0.45 0.41 0.010 1.000 1 2011 2011
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2003 2003
dbSNP: rs2077079
rs2077079
SFTPB
2 0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 0.010 1.000 1 2018 2018
dbSNP: rs7512462
rs7512462
SLC26A9
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs4077468
rs4077468
SLC26A9-AS1
2 0.925 0.200 1 205945629 upstream gene variant A/G snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs4363087
rs4363087
STX1A ; BUD23 ; LOC105375350
3 0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs9268905
rs9268905
HLA-DRB9
2 0.925 0.280 6 32464300 intron variant G/C snv 0.29 0.700 1.000 1 2011 2011