DSPP, dentin sialophosphoprotein, 1834

N. diseases: 114; N. variants: 13
Disease: Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 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: rs121912986
rs121912986 		0.882 0.200 4 87610957 missense variant C/A;T snv 4.0E-06
CUI: C1854146
Disease: Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2001 2012
dbSNP: rs121912987
rs121912987 		0.851 0.200 4 87612105 missense variant G/T snv
CUI: C1854146
Disease: Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2001 2012
dbSNP: rs1553904404
rs1553904404 		1.000 0.200 4 87615910 frameshift variant -/C ins
CUI: C1854146
Disease: Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0