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: C4748741
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 		0.800 0
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: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 2 2015 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: 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: 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: 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: rs62071306
rs62071306 		17 61398705 intron variant A/C snv 0.19
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2019 2019
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
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: 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: rs887258
rs887258 		17 61402219 intron variant C/A;G;T snv
CUI: C3272931
Disease: Fibroblast Growth Factor 23 Measurement
Fibroblast Growth Factor 23 Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs887258
rs887258 		17 61402219 intron variant C/A;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1401781
Disease: Short uvula
Short uvula 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0240953
Disease: Winged scapula
Winged scapula 		0.700 0