TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Double Outlet Right Ventricle ×
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: rs1274480565
rs1274480565 		0.925 0.120 22 19761154 missense variant C/T snv 7.0E-06
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013