Disease: Micrognathism
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11