Disease: Micrognathism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12