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: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs72550870
rs72550870
MASP2
8 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs582757
rs582757
TNFAIP3
8 0.776 0.320 6 137876687 intron variant C/T snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2011 2014
dbSNP: rs1217406
rs1217406
PTPN22 ; AP4B1-AS1
1 1.000 0.080 1 113850531 intron variant A/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs3789609
rs3789609
PTPN22 ; AP4B1-AS1
1 1.000 0.080 1 113855177 intron variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs4796793
rs4796793
STAT3
16 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs6503691
rs6503691
STAT5B
5 0.827 0.200 17 42242072 intron variant C/T snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 0.667 3 2007 2015
dbSNP: rs35514500
rs35514500 		1 1.000 0.080 14 59387188 intergenic variant -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2016 2016
dbSNP: rs2853550
rs2853550
IL1B
3 0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs447713
rs447713
IL1RN
5 0.851 0.160 2 113130095 non coding transcript exon variant A/G snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs11846409
rs11846409 		1 1.000 0.080 14 106645692 upstream gene variant T/G snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs200931578
rs200931578
IGHV4-61
1 1.000 0.080 14 106639263 missense variant T/A;C snv 6.9E-03 0.23 0.700 1.000 1 2017 2017
dbSNP: rs201076896
rs201076896
IGHV4-61
1 1.000 0.080 14 106639254 missense variant T/G snv 1.1E-02 0.27 0.700 1.000 1 2017 2017
dbSNP: rs201691548
rs201691548
IGHV4-61
1 1.000 0.080 14 106639255 missense variant A/C;G;T snv 5.1E-06; 3.6E-05; 1.0E-02 0.700 1.000 1 2017 2017