Disease: Tietz syndrome ×
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: rs104893745
rs104893745 		1.000 0.280 3 69951882 missense variant C/G snv
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2000 2000
dbSNP: rs149617956
rs149617956 		0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2011 2016
dbSNP: rs1553704086
rs1553704086 		0.925 0.280 3 69951856 missense variant G/A snv
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553704814
rs1553704814 		0.882 0.280 3 69956461 inframe deletion AGA/- delins
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559751245
rs1559751245 		0.882 0.280 3 69959280 missense variant C/G snv
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0