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: rs1057518848
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0