Disease: Submucous cleft of hard palate
Source: CLINVAR ×
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
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8