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: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2302217
rs2302217
MADCAM1
1 1.000 0.040 19 498524 synonymous variant A/C;G snv 1.6E-05; 0.51 0.010 1.000 1 2009 2009
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4693608
rs4693608
HPSE
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.020 1.000 2 2010 2014
dbSNP: rs1238539471
rs1238539471
NOD2
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1367967034
rs1367967034
NOD2
2 1.000 0.040 16 50707959 splice region variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs4364254
rs4364254
HPSE
3 0.882 0.080 4 83302560 intron variant C/T snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2012 2018
dbSNP: rs10737416
rs10737416
LOC105373109
1 1.000 0.040 1 224887055 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs17582214
rs17582214 		1 1.000 0.040 9 119676531 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3004070
rs3004070
MOCS1 ; DAAM2
1 1.000 0.040 6 39902176 3 prime UTR variant T/A snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs337629
rs337629
KLF3-AS1
1 1.000 0.040 4 38633737 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4833079
rs4833079
KLF3-AS1
2 1.000 0.040 4 38653060 intron variant T/C snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs4837656
rs4837656 		1 1.000 0.040 9 119671775 intergenic variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs6531656
rs6531656
KLF3
2 1.000 0.040 4 38682580 intron variant C/T snv 0.87 0.010 1.000 1 2012 2012
dbSNP: rs7251
rs7251
IRF3
2 0.925 0.080 19 49659652 missense variant C/A;G snv 0.39 0.44 0.010 1.000 1 2013 2013
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2019
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2014 2014
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2014 2014
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs17114808
rs17114808
SUFU
2 0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2015 2015