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: rs111033214
rs111033214 		0.882 0.200 11 77189348 missense variant G/A snv 2.0E-05 4.2E-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 24 1995 2016
dbSNP: rs28934610
rs28934610 		0.882 0.200 11 77156904 missense variant G/A snv 1.2E-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 0.800 1.000 24 1995 2016
dbSNP: rs397516321
rs397516321 		0.925 0.200 11 77205598 missense variant C/T snv 1.2E-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 0.800 1.000 21 1995 2017
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: rs199606180
rs199606180 		0.882 0.200 11 77206120 missense variant C/T snv 1.2E-05 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 0.800 1.000 17 1995 2015
dbSNP: rs111033178
rs111033178 		0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-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 0.800 1.000 16 1995 2015
dbSNP: rs111033215
rs111033215 		0.925 0.200 11 77206108 missense variant G/A snv 3.3E-05 4.2E-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 15 1995 2015
dbSNP: rs111033283
rs111033283 		0.882 0.200 11 77156909 missense variant G/A snv 8.0E-06 7.0E-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 0.800 1.000 15 1995 2015
dbSNP: rs368657015
rs368657015 		0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-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 0.800 1.000 15 1995 2015
dbSNP: rs1472566324
rs1472566324 		0.925 0.200 11 77156676 missense variant G/A snv 7.0E-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 0.800 1.000 6 2006 2016
dbSNP: rs121965084
rs121965084 		1.000 0.120 11 77162149 missense variant A/G;T snv 1.3E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 4 1997 2004
dbSNP: rs121965081
rs121965081 		1.000 0.120 11 77157000 missense variant G/A;C snv 2.7E-04; 4.0E-06
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1997 2017
dbSNP: rs121965082
rs121965082 		0.925 0.200 11 77166162 missense variant G/A snv
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1997 2017
dbSNP: rs876657416
rs876657416 		1.000 0.200 11 77174772 missense variant T/C snv 7.0E-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 0.800 1.000 2 2011 2014
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: 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: rs139889944
rs139889944 		1.000 0.200 11 77199771 missense variant G/A snv 3.7E-03 1.2E-03
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: rs782174733
rs782174733 		1.000 0.200 11 77177627 missense variant C/T snv 2.1E-05 7.0E-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