Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201278558
LINC02245 ; LOC107984063 ; SLC1A4
0.925 0.080 2 65010729 missense variant G/A snv 2.3E-04 1.2E-04 3
rs267608472
CDKL5
0.882 0.160 X 18579965 stop gained C/T snv 3
rs2963155
NR3C1
0.882 0.160 5 143376439 intron variant A/G snv 0.24 3
rs370114048
SCN2A
0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 3
rs4912905
NR3C1
0.925 0.080 5 143350811 intron variant G/C snv 0.20 3
rs869312661
PRAF2 ; WDR45
0.925 0.160 X 49075135 splice donor variant C/T snv 3
rs10482672
NR3C1
0.925 0.080 5 143312968 intron variant G/A snv 0.15 2
rs13397210
SCN1A ; SCN1A-AS1
0.925 0.080 2 166065518 intron variant C/G;T snv 2
rs242948
LINC02210-CRHR1 ; MAPT-AS1 ; CRHR1
0.925 0.080 17 45836178 intron variant G/C;T snv 2
rs45514095
TSC2
0.925 0.160 16 2085323 splice donor variant G/A snv 2
rs6877893
NR3C1
0.925 0.080 5 143347628 intron variant G/A snv 0.52 2
rs760543
LARGE1
0.925 0.080 22 33435602 intron variant C/T snv 0.38 2
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1564351388
STXBP1
0.882 0.080 9 127666193 frameshift variant -/T delins 4