SERPINF1, serpin family F member 1, 5176

N. diseases: 294; N. variants: 15
Disease: Osteogenesis Imperfecta, Type VI ×
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: rs193302872
rs193302872 		1.000 0.120 17 1775110 stop gained C/G snv
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193302873
rs193302873 		1.000 0.120 17 1777321 stop gained C/G;T snv
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122518
rs398122518 		1.000 0.120 17 1769885 frameshift variant TG/- delins
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122519
rs398122519 		1.000 0.120 17 1762114 splice donor variant -/T delins
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122520
rs398122520 		1.000 0.120 17 1775067 frameshift variant T/- del
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs869312908
rs869312908 		1.000 0.120 17 1777334 frameshift variant CCCGCTGGACTATCACCTT/- delins
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0