TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: DiGeorge Syndrome ×
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: rs41298838
rs41298838 		1.000 0.200 22 19765921 missense variant G/A;T snv 5.2E-03
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2001 2016
dbSNP: rs1555895466
rs1555895466 		1.000 0.200 22 19761162 stop gained A/T snv
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0