Disease: Global developmental delay
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins 3
rs730882247
TMEM92
0.882 0.040 17 50277743 splice region variant A/G snv 3