rs1555321402, FOXG1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 0.925 0.240 14 28768345 frameshift variant T/- delins 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.925 0.240 14 28768345 frameshift variant T/- delins 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.240 14 28768345 frameshift variant T/- delins 0.700 0