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
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16