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: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.900 0.957 23 2009 2020
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 14 2008 2018
dbSNP: rs27434
rs27434
ERAP1
1 1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05 0.890 1.000 10 2009 2018
dbSNP: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.870 1.000 9 2010 2019
dbSNP: rs4333130
rs4333130
ANTXR2
1 1.000 0.040 4 80028675 intron variant C/G;T snv 0.820 1.000 3 2010 2016
dbSNP: rs8070463
rs8070463 		2 0.925 0.120 17 47691470 upstream gene variant T/C snv 0.54 0.820 1.000 3 2011 2019
dbSNP: rs10440635
rs10440635 		2 1.000 0.040 5 40490688 intron variant G/A snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs17095830
rs17095830
ANO6
2 1.000 0.040 12 45381125 intron variant A/G snv 7.9E-02 0.810 1.000 2 2011 2013
dbSNP: rs2242944
rs2242944 		1 1.000 0.040 21 39093252 intergenic variant G/A snv 0.46 0.810 1.000 2 2010 2010
dbSNP: rs2310173
rs2310173 		2 0.925 0.080 2 102047167 intron variant T/C;G snv 0.810 1.000 2 2010 2016
dbSNP: rs4349859
rs4349859
MICA-AS1
2 0.925 0.040 6 31398010 upstream gene variant G/A snv 3.1E-02 0.810 1.000 2 2011 2012
dbSNP: rs4389526
rs4389526
ANTXR2
1 1.000 0.040 4 80025321 intron variant T/A snv 0.59 0.810 1.000 2 2011 2018
dbSNP: rs4552569
rs4552569 		2 1.000 0.040 5 83877774 upstream gene variant C/T snv 0.75 0.810 1.000 2 2011 2013
dbSNP: rs11616188
rs11616188 		5 0.827 0.120 12 6393576 upstream gene variant G/A snv 0.30 0.800 1.000 2 2011 2016
dbSNP: rs10781500
rs10781500
CARD9
1 1.000 0.040 9 136374886 upstream gene variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs11249215
rs11249215 		1 1.000 0.040 1 24970693 non coding transcript exon variant G/A snv 0.44 0.800 1.000 1 2011 2011
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: rs2297909
rs2297909
KIF21B
2 0.925 0.080 1 200991179 intron variant G/A snv 0.27 0.27 0.800 1.000 1 2011 2011
dbSNP: rs378108
rs378108 		1 1.000 0.040 21 39097594 intergenic variant A/G snv 0.42 0.800 1.000 1 2011 2011
dbSNP: rs6556416
rs6556416 		2 1.000 0.040 5 159391737 intron variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs7743761
rs7743761 		1 1.000 0.040 6 31368323 intron variant C/A snv 0.31 0.800 1.000 1 2010 2010
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.790 0.900 10 2010 2019
dbSNP: rs27037
rs27037
CAST
1 1.000 0.040 5 96758990 intron variant T/G snv 0.72 0.760 1.000 7 2010 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.760 0.571 7 2005 2018
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.750 1.000 6 2010 2019