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: rs7805114
rs7805114 		5 0.827 0.120 7 107809588 downstream gene variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6466198
rs6466198 		5 0.827 0.120 7 107839681 regulatory region variant A/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs13210693
rs13210693
CCDC162P
2 1.000 0.040 6 109277761 intron variant G/A snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs7115956
rs7115956
RDX ; LOC107984384
5 0.827 0.120 11 110085620 intron variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177
RDX ; ZC3H12C
6 0.807 0.120 11 110091706 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs8061882
rs8061882
CLEC16A
5 0.827 0.120 16 11067551 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11065898
rs11065898
SH2B3
2 1.000 0.040 12 111424771 intron variant C/T snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs11649613
rs11649613
LOC107984859
5 0.827 0.120 16 11225500 downstream gene variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs2024092
rs2024092
SBNO2
6 0.827 0.120 19 1124032 intron variant G/A snv 0.24 0.26 0.700 1.000 1 2016 2016
dbSNP: rs2171513
rs2171513
BTLA
1 1.000 0.040 3 112466080 3 prime UTR variant A/G snv 0.86 0.76 0.010 1.000 1 2017 2017
dbSNP: rs367569
rs367569
RMI2 ; LOC105371082
6 0.807 0.120 16 11271643 intron variant C/T snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs2856836
rs2856836
IL1A
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs3783550
rs3783550
IL1A
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.020 0.500 2 2017 2020
dbSNP: rs3783546
rs3783546
IL1A
5 0.882 0.160 2 112777253 intron variant G/C snv 0.70 0.020 0.500 2 2017 2020
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1894399
rs1894399
IL1A
2 0.925 0.040 2 112782600 intron variant C/T snv 0.32 0.020 1.000 2 2012 2012
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.030 1.000 3 2011 2019
dbSNP: rs2853550
rs2853550
IL1B
3 0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83 0.020 1.000 2 2017 2020
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 < 0.001 1 2011 2011
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2011 2011
dbSNP: rs1160489801
rs1160489801
IL37
1 1.000 0.040 2 112918672 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3811058
rs3811058
IL1F10
2 0.925 0.040 2 113074368 missense variant T/A;C snv 4.0E-06; 0.13 0.010 1.000 1 2012 2012
dbSNP: rs315952
rs315952
IL1RN
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 1.000 1 2011 2011
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015