Disease: Developmental delay (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057517718
CLCN7
0.882 0.160 16 1447498 missense variant T/C snv 4
rs179363901
MECP2
0.882 0.120 X 154097661 missense variant G/A snv 4
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv 4
rs398123001
PUF60
0.925 8 143818378 missense variant G/A snv 4
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
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
rs34832477
TUBGCP2
0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 3
rs367619008
DPYD
0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 3
rs786203986
NALCN
0.925 13 101176371 missense variant G/A;C snv 4.3E-06 3
rs886041459
TUBB3
0.925 0.080 16 89935140 missense variant C/T snv 3
rs1057517846
WWOX
1.000 16 78108446 stop gained G/A snv 2
rs1310897090
NBAS
1.000 2 15467394 stop gained G/A snv 2