Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519090
COL4A2
0.851 0.160 13 110492105 missense variant G/A snv 7
rs17197936 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 3
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs778767225
MOK
0.851 0.200 14 102231805 missense variant C/A snv 2.4E-05 7.0E-06 4
rs741761
SEMA7A ; MIR6881
0.882 0.200 15 74411588 missense variant T/A;C snv 1.8E-04; 0.35 3
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 17
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 15
rs1143679
ITGAM
0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 14
rs771184127
NOD2
0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 9
rs104895094
MEFV
0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 5
rs2670660
NLRP1
0.708 0.400 17 5615686 intron variant A/G snv 0.41 15
rs12150220
NLRP1
0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 14
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs6074028
CD40
1.000 0.040 20 46126219 intron variant A/C;G snv 1
rs73115010
CD40
1.000 0.040 20 46124597 intron variant T/C snv 0.18 1
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1477353313
ACR
0.925 0.120 22 50744085 missense variant T/G snv 2