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: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.750 4 1999 2013
dbSNP: rs11575936
rs11575936
IFNGR1
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.010 1.000 1 2001 2001
dbSNP: rs1425851607
rs1425851607
IFNA1
2 0.925 0.080 9 21440691 frameshift variant C/- delins 4.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs55661460
rs55661460
IL12B ; LOC107986469
3 0.882 0.120 5 159320326 missense variant C/T snv 2.2E-03 7.3E-04 0.010 1.000 1 2001 2001
dbSNP: rs900333744
rs900333744
IFNA1
2 0.925 0.080 9 21440695 missense variant A/G snv 0.010 1.000 1 2001 2001
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2001 2001
dbSNP: rs1362834154
rs1362834154
IL4R
2 0.925 0.080 16 27363681 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2002 2002
dbSNP: rs1805014
rs1805014
IL4R
4 0.851 0.080 16 27363708 missense variant T/C snv 7.4E-03 1.4E-02 0.010 1.000 1 2002 2002
dbSNP: rs4523
rs4523
TBXA2R
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.010 1.000 1 2002 2002
dbSNP: rs1538660
rs1538660
ELP1
3 0.882 0.080 9 108879545 missense variant G/A snv 0.19 0.22 0.010 1.000 1 2003 2003
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2020
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2006 2006
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs41347648
rs41347648
CYSLTR2
3 0.882 0.080 13 48707418 missense variant A/G snv 1.7E-02 1.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs10494132
rs10494132
CHIA
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs2282290
rs2282290
CHIA
2 0.925 0.080 1 111320829 intron variant A/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs3217304
rs3217304
INPP4A
2 0.925 0.080 2 98544046 intron variant ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC delins 0.25 0.010 1.000 1 2008 2008
dbSNP: rs3806448
rs3806448
CHIA
2 0.925 0.080 1 111289583 upstream gene variant G/A snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2233407
rs2233407
NFKBIA
3 0.882 0.080 14 35405317 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2664538
rs2664538
MMP9
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2010 2010