TBX2, T-box transcription factor 2, 6909

N. diseases: 152; 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: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1853638
Disease: Broad neck
Broad neck 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs8068318
rs8068318 		17 61406405 non coding transcript exon variant C/T snv 0.56
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2010 2010
dbSNP: rs8068318
rs8068318 		17 61406405 non coding transcript exon variant C/T snv 0.56
CUI: C0428279
Disease: Finding of creatinine level
Finding of creatinine level 		0.700 1.000 1 2010 2010
dbSNP: rs2240736
rs2240736 		17 61408032 non coding transcript exon variant C/T snv 0.64 0.68
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 2 2015 2018
dbSNP: rs8068318
rs8068318 		17 61406405 non coding transcript exon variant C/T snv 0.56
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2016 2016
dbSNP: rs8068318
rs8068318 		17 61406405 non coding transcript exon variant C/T snv 0.56
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2016 2016
dbSNP: rs8068318
rs8068318 		17 61406405 non coding transcript exon variant C/T snv 0.56
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs8068318
rs8068318 		17 61406405 non coding transcript exon variant C/T snv 0.56
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs2240736
rs2240736 		17 61408032 non coding transcript exon variant C/T snv 0.64 0.68
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2018
dbSNP: rs2240736
rs2240736 		17 61408032 non coding transcript exon variant C/T snv 0.64 0.68
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs1555877071
rs1555877071 		1.000 17 61404632 missense variant G/A snv
CUI: C4748741
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 		0.700 1.000 1 2018 2018
dbSNP: rs191930922
rs191930922 		1.000 17 61408214 missense variant G/A snv 8.2E-04 3.5E-04
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2018 2018
dbSNP: rs2240736
rs2240736 		17 61408032 non coding transcript exon variant C/T snv 0.64 0.68
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7215775
rs7215775 		17 61406955 non coding transcript exon variant A/G snv 0.68
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7215775
rs7215775 		17 61406955 non coding transcript exon variant A/G snv 0.68
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		0.700 1.000 1 2018 2018