Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs886039529
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.080 2 166036051 frameshift variant TT/- delins 2
rs11105468
LOC105369890
1.000 0.080 12 89935056 intron variant T/A snv 0.26 1
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs1318653
MIR29B2CHG
1.000 0.080 1 207841577 intron variant T/C snv 0.19 1
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs689466
PACERR ; PTGS2
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs689470
PTGS2
0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 9
rs4648308
PTGS2
0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27 5
rs13306038
PTGS2
1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 1
rs201931599
PTGS2
1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02 1
rs4648306
PTGS2
1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12 1
rs689465
PTGS2 ; PACERR
0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 7
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs556893466
SCN1A-AS1 ; LOC102724058 ; SCN1A
1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06 1
rs3812718
SCN1A-AS1 ; SCN1A
0.776 0.240 2 166053034 splice region variant C/T snv 0.48 8
rs121918631
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166056450 stop gained A/G;T snv 3
rs121918782
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 3
rs1553553485
SCN1A-AS1 ; SCN1A
1.000 0.080 2 166058626 stop gained G/C snv 1
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs6746030
SCN1A-AS1 ; SCN9A
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 16
rs763256222
SCN1A-AS1 ; SCN9A
0.925 0.080 2 166288466 missense variant G/A snv 8.1E-06 2