TBXT, T-box transcription factor T, 6862

N. diseases: 41; N. variants: 4
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: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C0008487
Disease: Chordoma
Chordoma
Neoplasms 0.050 1.000 5 2012 2017