TBX4, T-box transcription factor 4, 9496

N. diseases: 127; N. variants: 12
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: rs28936696
rs28936696 		1.000 0.040 17 61483470 missense variant A/G snv
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.800 1.000 1 2004 2004
dbSNP: rs28938474
rs28938474 		1.000 0.040 17 61479921 missense variant G/T snv
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.800 1.000 1 2004 2004
dbSNP: rs140385970
rs140385970 		1.000 0.040 17 61482988 synonymous variant C/A;G;T snv 2.0E-05; 3.4E-04; 1.2E-04
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs140385970
rs140385970 		1.000 0.040 17 61482988 synonymous variant C/A;G;T snv 2.0E-05; 3.4E-04; 1.2E-04
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555882009
rs1555882009 		1.000 17 61465830 missense variant C/G snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2018 2018
dbSNP: rs1555882291
rs1555882291 		1.000 17 61467645 frameshift variant CCCTTTGGCC/- delins
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2018 2018
dbSNP: rs1555883338
rs1555883338 		1.000 17 61478746 inframe deletion TTC/- delins
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2018 2018
dbSNP: rs104894648
rs104894648 		1.000 0.040 17 61456674 stop gained C/T snv
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569036773
rs1569036773 		1.000 0.040 17 61465891 frameshift variant -/A delins
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.700 0
dbSNP: rs3744438
rs3744438 		1.000 0.080 17 61480239 missense variant C/A;T snv 4.0E-06; 0.14
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3744439
rs3744439 		17 61480072 intron variant T/C snv 8.4E-02 9.1E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3744448
rs3744448 		1.000 0.080 17 61456507 missense variant G/C;T snv 0.17; 1.1E-05
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs781496033
rs781496033 		0.925 0.120 17 61467615 missense variant G/C snv 4.0E-06
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs781496033
rs781496033 		0.925 0.120 17 61467615 missense variant G/C snv 4.0E-06
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2013 2013