Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1452295073
rs1452295073
FOXG1
1.000 0.120 14 28767780 frameshift variant G/-;GG delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0