Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs199469464
SRCAP
0.807 0.200 16 30737370 stop gained C/T snv 8