Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs2276109
MMP12
0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 18
rs201076896
IGHV4-61
1.000 0.080 14 106639254 missense variant T/G snv 1.1E-02 0.27 1
rs201691548
IGHV4-61
1.000 0.080 14 106639255 missense variant A/C;G;T snv 5.1E-06; 3.6E-05; 1.0E-02 1
rs200931578
IGHV4-61
1.000 0.080 14 106639263 missense variant T/A;C snv 6.9E-03 0.23 1
rs202166511
IGHV4-61
1.000 0.080 14 106639264 missense variant A/C;G;T snv 1.5E-05; 8.5E-03; 1.0E-05 1
rs202117805
IGHV4-61
1.000 0.080 14 106639291 missense variant G/A;C snv 2.0E-05; 0.14 1
rs11846409 1.000 0.080 14 106645692 upstream gene variant T/G snv 0.21 1
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 8
rs2853550
IL1B
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83 3
rs447713
IL1RN
0.851 0.160 2 113130095 non coding transcript exon variant A/G snv 0.21 5
rs2234663
IL1RN
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 14
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs1217406
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113850531 intron variant A/C snv 0.56 1
rs3789609
AP4B1-AS1 ; PTPN22
1.000 0.080 1 113855177 intron variant C/T snv 0.21 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs582757
TNFAIP3
0.776 0.320 6 137876687 intron variant C/T snv 0.70 8
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 31
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 98
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs1800896
IL19 ; IL10
0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1800797
IL6 ; IL6-AS1 ; STEAP1B
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140