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: rs3814055
rs3814055
NR1I2
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.020 1.000 2 2007 2011
dbSNP: rs3851228
rs3851228
TRAF3IP2-AS1 ; LOC107986522
3 0.925 0.040 6 111526988 intron variant A/T snv 9.7E-02 0.700 1.000 2 2015 2017
dbSNP: rs4409764
rs4409764 		3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.700 1.000 2 2015 2017
dbSNP: rs4495224
rs4495224 		2 0.925 0.040 5 40477413 intron variant C/A snv 0.61 0.020 1.000 2 2012 2014
dbSNP: rs4598195
rs4598195
LOC105375444
1 1.000 0.040 7 107862996 intergenic variant A/C snv 0.34 0.800 1.000 2 2009 2010
dbSNP: rs561722
rs561722
NXPE2
2 1.000 0.040 11 114516108 upstream gene variant C/T snv 0.35 0.800 1.000 2 2012 2015
dbSNP: rs6088765
rs6088765
PROCR ; MMP24OS ; MMP24-AS1-EDEM2
1 1.000 0.040 20 35211477 intron variant T/G snv 0.54 0.800 1.000 2 2012 2015
dbSNP: rs6927022
rs6927022
HLA-DQA1 ; LOC107986589
2 1.000 0.040 6 32644620 non coding transcript exon variant A/G snv 0.42 0.800 1.000 2 2012 2017
dbSNP: rs75900472
rs75900472 		3 0.925 0.040 9 4981601 upstream gene variant CC/A;C delins 4.6E-02 0.700 1.000 2 2015 2017
dbSNP: rs7720838
rs7720838 		4 0.925 0.040 5 40486794 intron variant G/T snv 0.52 0.020 1.000 2 2012 2014
dbSNP: rs886774
rs886774 		1 1.000 0.040 7 107854989 regulatory region variant G/A snv 0.67 0.810 1.000 2 2009 2015
dbSNP: rs962917
rs962917
MYO9B
4 0.882 0.040 19 17191438 intron variant G/A snv 0.45 0.020 0.500 2 2014 2016
dbSNP: rs9858542
rs9858542
BSN
3 0.925 0.040 3 49664550 synonymous variant G/A snv 0.26 0.27 0.810 1.000 2 2009 2010
dbSNP: rs1000113
rs1000113
IRGM
2 0.925 0.040 5 150860514 intron variant C/T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs10010325
rs10010325
TET2 ; TET2-AS1
4 1.000 0.040 4 105185196 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10035653
rs10035653
EXOC3 ; EXOC3-AS1
1 1.000 0.040 5 442675 non coding transcript exon variant G/A;T snv 9.1E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1016883
rs1016883
PLCL1
1 1.000 0.040 2 198016944 intron variant G/A snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs10226620
rs10226620
MAFK ; TMEM184A
4 1.000 0.040 7 1541881 3 prime UTR variant T/C snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs10415946
rs10415946
CEACAM6
1 1.000 0.040 19 41755151 intron variant A/G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs10416839
rs10416839 		1 1.000 0.040 19 41776424 intron variant G/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs104895486
rs104895486
NOD2
2 0.925 0.040 16 50716670 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs1049526
rs1049526
BRD2
3 0.925 0.040 6 32981027 3 prime UTR variant C/T snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs1077773
rs1077773
KCCAT333
2 1.000 0.040 7 17403055 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10910092
rs10910092
LOC100996583
1 1.000 0.040 1 2570077 downstream gene variant A/G snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs10925019
rs10925019
NLRP3
2 0.925 0.040 1 247432548 intron variant C/T snv 0.11 0.010 1.000 1 2014 2014