Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 9
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 8
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv 5
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4
rs1557136818
MECP2
0.925 0.120 X 154031259 missense variant C/T snv 4
rs61751444
MECP2
0.882 0.080 X 154030903 missense variant G/A snv 4
rs864309661
WDR45
1.000 0.080 X 49077715 inframe deletion CCA/- delins 4
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv 4
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06 3
rs1057518850
FMR1
1.000 0.040 X 147928320 splice acceptor variant A/G snv 2
rs1057519393
KDM5C
1.000 0.080 X 53197768 splice donor variant -/A delins 2