Disease: Seizures
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv 2
rs1569097392
SHANK3
1.000 22 50676625 stop gained C/T snv 2
rs771882905
KAT14
1.000 20 18162673 missense variant G/A snv 2.0E-05 2.8E-05 2
rs1277383877
PIGT
0.925 20 45421428 missense variant G/T snv 7.0E-06 3
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins 3
rs1564493599
TRPM3 ; LOC101927086
1.000 9 70598463 missense variant C/T snv 3
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv 3
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06 3
rs764774411
GCDH
0.925 0.120 19 12896052 missense variant G/C snv 4.0E-06 3
rs876657399
SCN8A
0.925 0.160 12 51768915 missense variant C/G snv 3
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins 4
rs1195505218
SLC25A22
0.925 0.040 11 792142 missense variant C/T snv 4.1E-06 4
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 4
rs1565035177
SLC25A22
0.925 0.040 11 792146 frameshift variant CA/- delins 4
rs587784491
TUBA1A
0.925 0.240 12 49186832 missense variant C/T snv 4
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs758723288
ECHS1
0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 4
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv 5
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5