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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 1.000 9 2000 2019
dbSNP: rs17375018
rs17375018
IL23R ; C1orf141
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.050 1.000 5 2010 2019
dbSNP: rs1518111
rs1518111
IL10 ; IL19
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.830 1.000 4 2010 2015
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.040 1.000 4 2000 2015
dbSNP: rs11209032
rs11209032 		10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.030 1.000 3 2010 2019
dbSNP: rs116799036
rs116799036 		1 1.000 0.200 6 31381371 downstream gene variant G/A snv 0.030 1.000 3 2013 2015
dbSNP: rs1495965
rs1495965 		8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.820 1.000 3 2010 2017
dbSNP: rs1554286
rs1554286
IL10 ; IL19
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.030 1.000 3 2012 2015
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.820 1.000 3 2013 2019
dbSNP: rs17810546
rs17810546
IL12A-AS1
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.810 1.000 3 2013 2015
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.030 1.000 3 2001 2016
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2005 2014
dbSNP: rs2617170
rs2617170
KLRC4 ; KLRC4-KLRK1
1 1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61 0.820 1.000 3 2013 2017
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 0.030 1.000 3 2014 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 1996 2013
dbSNP: rs7574070
rs7574070
STAT4
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 2000 2013
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.020 1.000 2 2015 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2014
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.020 1.000 2 2006 2009
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2015 2017
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.020 1.000 2 2005 2017
dbSNP: rs1805110
rs1805110
TGFBR3
3 0.882 0.200 1 91861488 missense variant G/A snv 0.13 0.13 0.020 1.000 2 2012 2015
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2009 2019
dbSNP: rs2253907
rs2253907 		3 0.882 0.360 6 31369093 intron variant C/T snv 0.43 0.700 1.000 2 2012 2013