TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Shprintzen 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: rs28939675
rs28939675 		0.882 0.200 22 19763273 missense variant T/A snv
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2003 2007