Disease: Motor delay
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14