ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Osteogenesis imperfecta, Levin type ×
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: rs397514736
rs397514736 		1.000 0.120 11 22259652 missense variant C/G;T snv 8.0E-06
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs759064817
rs759064817 		0.925 0.160 11 22262232 frameshift variant -/A delins 1.2E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs781027702
rs781027702 		0.925 0.160 11 22279544 missense variant C/A;G;T snv 4.0E-06; 4.8E-05; 4.0E-06
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0