TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Situs ambiguus ×
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: C0266642
Disease: Situs ambiguus
Situs ambiguus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs749275495
rs749275495 		0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018