MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
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: rs111033174
rs111033174 		0.925 0.200 11 77156683 missense variant C/T snv 2.8E-05; 2.4E-05 1.4E-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: 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: rs121965080
rs121965080 		0.925 0.200 11 77156903 missense variant C/T snv 2.1E-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: rs368341987
rs368341987 		1.000 0.200 11 77179843 missense variant G/A snv 1.2E-03 3.1E-04
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: rs781988557
rs781988557 		1.000 0.200 11 77181548 missense variant G/A snv 1.6E-05 1.4E-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: rs111033178
rs111033178 		0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1995 2011
dbSNP: rs111033178
rs111033178 		0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284 		11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284 		11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1995 2011
dbSNP: rs111033214
rs111033214 		0.882 0.200 11 77189348 missense variant G/A snv 2.0E-05 4.2E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 10 1999 2016
dbSNP: rs111033283
rs111033283 		0.882 0.200 11 77156909 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 8 1997 2014
dbSNP: rs28934610
rs28934610 		0.882 0.200 11 77156904 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 8 1996 2016
dbSNP: rs111033178
rs111033178 		0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 1999 2012
dbSNP: rs747656448
rs747656448 		0.925 0.200 11 77213908 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 1999 2017
dbSNP: rs111033174
rs111033174 		0.925 0.200 11 77156683 missense variant C/T snv 2.8E-05; 2.4E-05 1.4E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 2011 2016
dbSNP: rs368657015
rs368657015 		0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 2000 2012
dbSNP: rs782252317
rs782252317 		0.925 0.200 11 77142763 missense variant G/A;T snv 8.2E-06; 4.1E-06
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 1997 2016
dbSNP: rs111033215
rs111033215 		0.925 0.200 11 77206108 missense variant G/A snv 3.3E-05 4.2E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2010 2016
dbSNP: rs199897298
rs199897298 		1.000 0.120 11 77184688 missense variant G/T snv 2.2E-04 2.0E-04
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2011 2017
dbSNP: rs397516321
rs397516321 		0.925 0.200 11 77205598 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2006 2017
dbSNP: rs755934966
rs755934966 		0.882 0.200 11 77208780 missense variant G/A snv 1.1E-05 6.3E-05
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2009 2016