TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Disease: Atrial Septal Defect 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: rs137852954
rs137852954 		0.925 0.080 7 35248766 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2010
dbSNP: rs267607106
rs267607106 		0.925 0.080 7 35249968 missense variant G/C snv
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2010
dbSNP: rs137852955
rs137852955 		0.925 0.080 7 35245020 stop gained G/A snv
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0