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: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.030 0.333 3 2005 2014
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.030 0.333 3 2005 2014
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.030 0.333 3 2005 2006
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.020 1.000 2 2005 2011
dbSNP: rs31517
rs31517
LECT2 ; FBXL21P
1 1.000 0.120 5 135951340 missense variant T/C snv 0.64 0.62 0.010 < 0.001 1 2005 2005
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 2005 2005
dbSNP: rs751650405
rs751650405
NHS
1 1.000 0.120 X 17719360 missense variant C/G;T snv 3.5E-05 2.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.780 0.625 8 2006 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 1.000 5 2006 2019
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.050 1.000 5 2006 2016
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.040 0.750 4 2006 2013
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 0.667 3 2006 2018
dbSNP: rs3761959
rs3761959
FCRL3
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.710 1.000 2 2006 2015
dbSNP: rs104895218
rs104895218
TNFRSF1A
5 0.827 0.240 12 6334099 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2006 2006
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs945635
rs945635
FCRL3
4 0.882 0.200 1 157700500 5 prime UTR variant C/A;G snv 5.6E-05; 0.45 0.010 1.000 1 2006 2006
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.966 29 2007 2017
dbSNP: rs6920220
rs6920220 		14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.900 0.938 16 2007 2019
dbSNP: rs3761847
rs3761847
TRAF1
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.870 0.909 11 2007 2015
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.790 1.000 9 2007 2014
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.880 1.000 8 2007 2016
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.770 1.000 8 2007 2020
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.070 0.714 7 2007 2018
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.820 1.000 6 2007 2018