Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 9
rs146572471
SLC30A3
1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 1
rs142740233
SLC12A5
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 3
rs770771659
SCN9A ; SCN1A-AS1
0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05 2
rs1555228665
SCN8A
0.882 0.080 12 51788702 missense variant T/C snv 4
rs17183814
SCN2A
0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 7
rs121917748
SCN2A
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 4
rs16850331
SCN2A
0.925 0.080 2 165292743 intron variant C/T snv 0.23 2
rs3943809
SCN2A
0.925 0.080 2 165344371 intron variant A/G snv 0.20 2
rs3769955
SCN2A
1.000 0.080 2 165378122 intron variant C/T snv 0.42 1
rs6432860
SCN1A ; SCN1A-AS1
0.925 0.080 2 166041354 synonymous variant A/G;T snv 0.73; 4.0E-06 4
rs7587026
SCN1A ; SCN1A-AS1
0.925 0.080 2 166122240 intron variant C/A snv 0.26 2
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
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
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
rs556893466
SCN1A-AS1 ; LOC102724058 ; SCN1A
1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06 1
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs689465
PTGS2 ; PACERR
0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 7