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: rs1122900
rs1122900 		1 1.000 0.040 5 36689079 intron variant A/C snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs2978951
rs2978951 		1 1.000 0.040 8 6965773 downstream gene variant A/G snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs4284742
rs4284742
SIGLEC5
2 0.925 0.040 19 51628480 intron variant A/G snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs4970469
rs4970469
OSTCP2
1 1.000 0.040 1 26986325 non coding transcript exon variant G/A;T snv 7.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1537415
rs1537415
GLT6D1
4 0.851 0.040 9 135637876 intron variant G/C snv 0.36 0.030 1.000 3 2010 2019
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.030 1.000 3 2008 2015
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.020 1.000 2 2010 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2014 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2018 2019
dbSNP: rs3795391
rs3795391
S100A8
3 0.882 0.040 1 153390629 non coding transcript exon variant T/C snv 8.3E-02 0.020 1.000 2 2007 2009
dbSNP: rs3806232
rs3806232
S100A8
3 0.882 0.040 1 153391654 upstream gene variant T/C snv 0.15 0.020 1.000 2 2007 2009
dbSNP: rs4252120
rs4252120
PLG
5 0.827 0.080 6 160722576 intron variant T/C;G snv 0.21 0.020 0.500 2 2015 2017
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 2008 2015
dbSNP: rs5030879
rs5030879
FPR1
2 0.925 0.040 19 51746647 synonymous variant G/A snv 2.8E-02 9.5E-02 0.020 1.000 2 2009 2009
dbSNP: rs6667202
rs6667202
IL19
4 0.882 0.120 1 206783747 intron variant C/A;T snv 0.020 1.000 2 2013 2019
dbSNP: rs1042229
rs1042229
FPR1
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2003 2003
dbSNP: rs104894211
rs104894211
CTSC
3 0.882 0.120 11 88294358 missense variant T/C snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs104895464
rs104895464
NOD2
2 0.925 0.040 16 50712283 missense variant G/A snv 1.6E-03 1.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs1247559
rs1247559
LOC105378091
2 0.925 0.040 6 160782724 intron variant C/T snv 0.17 0.010 < 0.001 1 2017 2017
dbSNP: rs13005285
rs13005285
ATG16L1
3 0.882 0.080 2 233286311 intron variant T/G snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs1333042
rs1333042
CDKN2B-AS1
7 0.827 0.120 9 22103814 intron variant A/G snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs1342913
rs1342913
BRINP3
4 0.851 0.040 1 190151895 intron variant G/A snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs142548867
rs142548867
EEFSEC
2 0.925 0.040 3 128264663 missense variant C/T snv 1.8E-03 6.8E-04 0.010 1.000 1 2020 2020
dbSNP: rs145616324
rs145616324
SMPD3
2 0.925 0.040 16 68371770 missense variant G/A snv 3.7E-03 1.3E-03 0.010 1.000 1 2017 2017