TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
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: rs1553511224
rs1553511224
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0