Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs11105468
LOC105369890
1.000 0.080 12 89935056 intron variant T/A snv 0.26 1
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs114444506
ANO3-AS1 ; LOC105376598 ; ANO3
1.000 0.080 11 26325284 intron variant T/C snv 1.7E-02 1
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs121909673
GABRG2
0.776 0.080 5 162093965 missense variant G/A snv 10
rs121917748
SCN2A
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 4
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
rs1318653
MIR29B2CHG
1.000 0.080 1 207841577 intron variant T/C snv 0.19 1
rs13306038
PTGS2
1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 1
rs1398830127
GABBR1
0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 2
rs142740233
SLC12A5
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 3
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs146572471
SLC30A3
1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 1
rs1553553485
SCN1A-AS1 ; SCN1A
1.000 0.080 2 166058626 stop gained G/C snv 1
rs1555228665
SCN8A
0.882 0.080 12 51788702 missense variant T/C snv 4
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5
rs16850331
SCN2A
0.925 0.080 2 165292743 intron variant C/T snv 0.23 2
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs17183814
SCN2A
0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 7