Disease: Global developmental delay
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs774843232
PGAP2
0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 9
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv 7
rs1057518776
DYNC1H1
0.925 0.080 14 101986027 missense variant T/A snv 4
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4