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
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs80356611
KCNJ11
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 10
rs1285524167
ABCC8
0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 8
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv 8
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv 7
rs80356730
TARDBP
0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 7
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv 6
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5
rs193929358
KCNJ11
0.851 0.240 11 17387091 missense variant C/T snv 5
rs369867819
LOC107984360 ; LRRC32
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 5
rs398122855
PRPS1
0.882 0.240 X 107642384 missense variant G/C snv 5
rs751569508
NCOR1
1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 5
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