TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
Disease: Central hypotonia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0