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: rs587777303
rs587777303
1.000 6 166165800 missense variant T/C snv 4.0E-06
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
0.800 1.000 1 2014 2014
dbSNP: rs3127334
rs3127334
1.000 6 166160758 intron variant G/A snv 0.77
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 0
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
dbSNP: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C1859101
Disease: Vertebral chordoma
Vertebral chordoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C1335975
Disease: Skull Base Chordoma
Skull Base Chordoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2014 2014
dbSNP: rs2305089
rs2305089
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3099266
rs3099266
1.000 0.080 6 166167659 5 prime UTR variant T/A;C snv
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016