Disease: Micrognathism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17