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
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6