TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
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: rs3809627
rs3809627 		16 30091839 5 prime UTR variant C/A snv 0.41
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 3 2016 2019
dbSNP: rs201620629
rs201620629 		1.000 16 30086847 stop gained G/A;C snv 8.1E-06; 4.1E-06
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 1.000 2 2013 2015
dbSNP: rs3809627
rs3809627 		16 30091839 5 prime UTR variant C/A snv 0.41
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs758051786
rs758051786 		1.000 16 30088757 frameshift variant C/-;CC delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 1.000 2 2013 2015
dbSNP: rs786204039
rs786204039 		1.000 16 30086285 frameshift variant -/A delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 1.000 2 2013 2015
dbSNP: rs786204040
rs786204040 		1.000 16 30090844 frameshift variant -/G delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 1.000 2 2013 2015
dbSNP: rs879253776
rs879253776 		1.000 16 30086366 frameshift variant -/G delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 1.000 2 2013 2015
dbSNP: rs879253857
rs879253857 		1.000 16 30086356 frameshift variant CT/- del
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 1.000 2 2013 2015
dbSNP: rs202193096
rs202193096 		0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3809627
rs3809627 		16 30091839 5 prime UTR variant C/A snv 0.41
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3809627
rs3809627 		16 30091839 5 prime UTR variant C/A snv 0.41
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs3809627
rs3809627 		16 30091839 5 prime UTR variant C/A snv 0.41
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs1567342899
rs1567342899 		1.000 16 30090889 frameshift variant -/C delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0
dbSNP: rs202193096
rs202193096 		0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0
dbSNP: rs587777113
rs587777113 		1.000 16 30086225 stop lost T/A snv
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0
dbSNP: rs3809624
rs3809624 		1.000 0.040 16 30091481 5 prime UTR variant T/C snv 0.26
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010