TCTEX1D2, Tctex1 domain containing 2, 255758

N. diseases: 19; N. variants: 1
Disease: Asphyxiating Thoracic Dystrophy 1 ×
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: rs886039815
rs886039815 		0.851 0.320 3 196306939 splice region variant T/A snv
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0