MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: USHER SYNDROME, TYPE IB (disorder) ×
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: rs121965083
rs121965083 		1.000 0.200 11 77172834 stop gained C/A snv
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 1998 1998
dbSNP: rs121965079
rs121965079 		1.000 0.200 11 77156069 stop gained C/A;T snv 4.5E-04
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121965080
rs121965080 		0.925 0.200 11 77156903 missense variant C/T snv 2.1E-05
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121965082
rs121965082 		0.925 0.200 11 77166162 missense variant G/A snv
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121965085
rs121965085 		0.882 0.200 11 77174816 stop gained C/T snv 1.6E-05 3.5E-05
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555062984
rs1555062984 		1.000 0.200 11 77156916 inframe deletion GACATC/- delins
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28934610
rs28934610 		0.882 0.200 11 77156904 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs35689081
rs35689081 		0.851 0.200 11 77142783 stop gained C/A;T snv 3.7E-05; 3.6E-03
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs41298133
rs41298133 		0.882 0.200 11 77156969 stop gained C/T snv 3.6E-05 3.5E-05
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs750647872
rs750647872 		0.851 0.200 11 77192132 stop gained C/T snv 3.2E-05
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555067667
rs1555067667 		0.882 0.200 11 77160272 missense variant C/A snv
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 1998 1998