TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Tetralogy of Fallot ×
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: rs1445910672
rs1445910672 		1.000 0.080 22 19761255 stop gained G/A;T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0