Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs932485786
ARX
1.000 0.040 X 25015654 stop gained G/A;T snv 2
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs907041830
EIF2B5
1.000 0.040 3 184140584 missense variant A/G;T snv 4.0E-06 3
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs886041874
PHGDH
1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 2
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 4
rs886041339
KCNQ2
0.925 0.040 20 63424195 frameshift variant G/-;GG delins 3
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv 3
rs886041276
POLG
15 89319275 frameshift variant CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- delins 1
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs886039529
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.080 2 166036051 frameshift variant TT/- delins 2
rs886039261
DEPDC5
0.925 0.040 22 31815101 stop gained C/T snv 3
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 5
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs878853324
PPT1
0.882 0.160 1 40078579 missense variant A/T snv 5
rs878853323
PPT1
0.882 0.160 1 40092499 missense variant A/G snv 4
rs878853322
PPT1
0.925 0.160 1 40078573 missense variant G/A snv 4
rs878853283
FRRS1L
1.000 9 109149675 frameshift variant -/T delins 4