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: rs2075820
rs2075820
NOD1
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2234678
rs2234678
IL1RN
2 0.925 0.080 2 113117988 5 prime UTR variant A/G snv 0.25 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2280089
rs2280089
ADAM33
2 0.925 0.080 20 3669480 non coding transcript exon variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2280091
rs2280091
ADAM33
3 0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2388639
rs2388639 		2 0.925 0.080 16 54455881 regulatory region variant C/A snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs2569191
rs2569191
CD14 ; TMCO6
2 1.000 0.080 5 140634318 upstream gene variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2787094
rs2787094
ADAM33
4 0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs2853209
rs2853209
ADAM33
5 0.827 0.200 20 3670825 intron variant T/A snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs34104444
rs34104444
PDCD4
1 1.000 0.080 10 110885330 synonymous variant G/A snv 3.7E-02 6.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs3742030
rs3742030
TRPV4
4 0.925 0.080 12 109814742 missense variant G/A;C snv 3.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs3752120
rs3752120
ZNF432
1 1.000 0.080 19 52048768 5 prime UTR variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs44707
rs44707
ADAM33
2 0.925 0.080 20 3670579 non coding transcript exon variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4751440
rs4751440
NPS
3 0.925 0.120 10 127552592 missense variant G/A;C snv 1.6E-05; 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4914
rs4914
CD14 ; TMCO6
2 0.925 0.160 5 140631883 synonymous variant C/A;G snv 4.8E-05; 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs511898
rs511898
ADAM33
2 0.925 0.080 20 3674438 3 prime UTR variant C/T snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs5491
rs5491
ICAM1
6 0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2014 2014
dbSNP: rs571448378
rs571448378
FDXR
5 0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs5744455
rs5744455
CD14 ; TMCO6
5 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2015 2015
dbSNP: rs652438
rs652438
MMP12
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs678881
rs678881
ADAM33
2 0.925 0.080 20 3669156 intron variant G/A;C snv 0.010 1.000 1 2019 2019