Disease: MOHR-TRANEBJAERG 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: rs80356560
rs80356560 		1.000 0.280 X 101346595 missense variant G/C snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 4 2000 2002
dbSNP: rs80356559
rs80356559 		1.000 0.280 X 101348553 stop gained G/A snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.710 1.000 1 2007 2007
dbSNP: rs1054894
rs1054894 		1.000 0.280 X 101346555 stop gained G/A snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs111033631
rs111033631 		0.925 0.280 X 101348595 stop gained C/A;G snv 5.5E-06
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869320664
rs869320664 		1.000 0.280 X 101348549 frameshift variant A/- del
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869320665
rs869320665 		1.000 0.280 X 101348592 frameshift variant C/- delins
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869320666
rs869320666 		1.000 0.280 X 101346683 3 prime UTR variant T/G snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869320667
rs869320667 		1.000 0.280 X 101348538 frameshift variant A/- delins
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869320733
rs869320733 		1.000 0.280 X 101346636 frameshift variant CCCAGGCTTG/- delins
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0