Disease: Developmental delay (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 4
rs104894884
NDUFA1 ; RNF113A
0.882 0.040 X 119871933 missense variant G/C snv 4
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs1057517718
CLCN7
0.882 0.160 16 1447498 missense variant T/C snv 4
rs1057517846
WWOX
1.000 16 78108446 stop gained G/A snv 2
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs1285524167
ABCC8
0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 8
rs1310897090
NBAS
1.000 2 15467394 stop gained G/A snv 2
rs142375870
MAG
0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 3
rs144553163
MAG
0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03 3
rs145536528
SLU7
1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 3
rs179363901
MECP2
0.882 0.120 X 154097661 missense variant G/A snv 4
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv 6
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv 4
rs193929358
KCNJ11
0.851 0.240 11 17387091 missense variant C/T snv 5
rs200345816
SH2B2 ; CUX1
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 3
rs2076101
APOBEC3F
0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44 3
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs34832477
TUBGCP2
0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 3