Disease: Global developmental delay
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs1560162116
ALG3
0.882 0.080 3 184242930 missense variant T/C snv 5
rs1560164682
ALG3
0.882 0.080 3 184245709 splice region variant T/C snv 5
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv 3
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5