PPIB, peptidylprolyl isomerase B, 5479

N. diseases: 59; N. variants: 8
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: rs137853864
rs137853864 		1.000 0.120 15 64162961 missense variant A/C;G;T snv 4.0E-06; 8.1E-06
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2009 2010
dbSNP: rs121434559
rs121434559 		1.000 0.120 15 64156802 stop gained G/A snv
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137853865
rs137853865 		1.000 0.120 15 64162867 frameshift variant G/- delins
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137853866
rs137853866 		1.000 0.120 15 64160134 missense variant C/T snv 2.0E-05
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137853869
rs137853869 		1.000 0.120 15 64156115 frameshift variant TCTT/- del 2.1E-05
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122834
rs398122834 		1.000 0.120 15 64156108 frameshift variant GTCT/- delins
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1235014059
rs1235014059 		1.000 0.120 15 64162962 missense variant T/C snv
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs199606428
rs199606428 		1.000 0.120 15 64156744 missense variant C/T snv 6.8E-05 1.4E-05
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2017 2017