GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Tracheomalacia ×
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: rs137854539
rs137854539 		0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases 0.700 0