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: rs10063949
rs10063949
SLC23A1
4 0.882 0.080 5 139383837 intron variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs10065172
rs10065172
IRGM
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 1.000 1 2011 2011
dbSNP: rs10114470
rs10114470
TNFSF15
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs104895467
rs104895467
NOD2
5 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs10491434
rs10491434
IL7R
2 1.000 0.080 5 35877812 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs10499563
rs10499563
STEAP1B
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1051792
rs1051792
MICA
5 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2010 2010
dbSNP: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs111033623
rs111033623
SH2D1A ; STAG2
3 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs11190140
rs11190140
NKX2-3 ; LINC01475
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11465797
rs11465797
IL23R ; C1orf141
2 1.000 0.040 1 67200769 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs11739135
rs11739135 		2 1.000 0.040 5 132397705 downstream gene variant G/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs11938228
rs11938228
TLR2
4 0.882 0.120 4 153700794 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1238539471
rs1238539471
NOD2
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2009 2009