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: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs3807306
rs3807306
IRF5
8 0.776 0.320 7 128940626 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs4395908
rs4395908
CSMD1
1 1.000 0.120 8 4168122 intron variant C/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs4746201
rs4746201
REEP3
1 1.000 0.120 10 63562621 intron variant G/A;T snv 2.2E-05; 0.16 0.700 1.000 1 2012 2012
dbSNP: rs4750316
rs4750316
LINC02649 ; LINC02656
5 0.882 0.160 10 6351298 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs55705316
rs55705316 		14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs62324212
rs62324212
IL21-AS1
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6479891
rs6479891
JMJD1C
1 1.000 0.120 10 63246696 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2015 2015
dbSNP: rs7660520
rs7660520 		14 0.724 0.240 4 182824168 upstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs7831697
rs7831697 		14 0.724 0.240 8 137124061 regulatory region variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2015 2015
dbSNP: rs9414788
rs9414788
JMJD1C
1 1.000 0.120 10 63296952 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs953387
rs953387 		1 1.000 0.120 2 136149600 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs11466018
rs11466018
MEFV
7 0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
NKD1
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
LRRK2 ; LOC105369736
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1018981
rs1018981
LOC105375246
1 1.000 0.120 7 41335525 intergenic variant C/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2015 2015