Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 11
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs377510027
DARS1
0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 6
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 6
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv 10
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv 10
rs953686324
CLCNKB
0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 7
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins 9
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs550423482
PNPO
0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 6
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9