Disease: Aplasia/Hypoplasia of the corpus callosum
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33