MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher Syndrome, Type I ×
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: rs1555067667
rs1555067667 		0.882 0.200 11 77160272 missense variant C/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 20 1995 2015
dbSNP: rs782166819
rs782166819 		0.882 0.200 11 77156990 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 20 1995 2015
dbSNP: rs782252317
rs782252317 		0.925 0.200 11 77142763 missense variant G/A;T snv 8.2E-06; 4.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 20 1995 2016
dbSNP: rs111033181
rs111033181 		0.925 0.200 11 77156022 missense variant T/A;C snv 2.8E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 19 1995 2016
dbSNP: rs111033206
rs111033206 		0.925 0.200 11 77162854 missense variant G/A snv 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 19 1995 2015
dbSNP: rs111033403
rs111033403 		1.000 0.200 11 77156018 missense variant C/A;G;T snv 4.8E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 17 1995 2015
dbSNP: rs375050157
rs375050157 		1.000 0.200 11 77182575 missense variant T/A;C;G snv 1.2E-05; 4.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 17 1995 2015
dbSNP: rs397516332
rs397516332 		0.925 0.200 11 77214608 missense variant G/A;T snv 5.2E-06; 1.0E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 17 1995 2015
dbSNP: rs763469001
rs763469001 		1.000 0.200 11 77192155 missense variant G/C;T snv 4.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 17 1995 2015
dbSNP: rs111033233
rs111033233 		1.000 0.200 11 77181589 missense variant G/A;T snv 4.0E-06; 8.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 15 1995 2015
dbSNP: rs111033286
rs111033286 		1.000 0.200 11 77162146 missense variant C/T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 15 1995 2015
dbSNP: rs111033287
rs111033287 		1.000 0.200 11 77203118 missense variant C/A;G;T snv 2.8E-04; 6.5E-06; 1.9E-03; 1.3E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 15 1995 2015
dbSNP: rs369125667
rs369125667 		1.000 0.200 11 77142767 missense variant C/A;T snv 4.1E-06; 1.6E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 15 1995 2015
dbSNP: rs373169422
rs373169422 		1.000 0.200 11 77192105 missense variant G/A;C snv 1.2E-05; 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 15 1995 2015
dbSNP: rs878853236
rs878853236 		0.882 0.200 11 77174789 missense variant C/T snv 4.2E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2014 2016
dbSNP: rs111033415
rs111033415 		0.925 0.200 11 77162118 splice acceptor variant A/G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2005 2016
dbSNP: rs1555090171
rs1555090171 		0.925 0.200 11 77189343 splice acceptor variant G/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2005 2013
dbSNP: rs1555096223
rs1555096223 		0.925 0.200 11 77194496 frameshift variant C/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2006 2016
dbSNP: rs397516295
rs397516295 		0.925 0.200 11 77179044 splice acceptor variant G/A;T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2011 2011
dbSNP: rs797044516
rs797044516 		0.882 0.200 11 77184715 missense variant G/A;C snv 5.1E-06; 5.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2014 2016
dbSNP: rs111033192
rs111033192 		1.000 0.200 11 77207370 stop gained G/A;T snv 4.1E-06; 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1199012623
rs1199012623 		0.882 0.200 11 77199804 frameshift variant A/- del 8.3E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2008 2012
dbSNP: rs1269622956
rs1269622956 		1.000 0.200 11 77162124 missense variant G/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2014
dbSNP: rs1555051384
rs1555051384 		0.925 0.200 11 77142707 splice acceptor variant A/G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1997 2009
dbSNP: rs1555101858
rs1555101858 		0.925 0.200 11 77201512 frameshift variant G/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2007 2010