MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Deafness, Autosomal Dominant 11 ×
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: 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: rs1057517857
rs1057517857 		0.882 0.200 11 77190113 stop gained C/T snv
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033178
rs111033178 		0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033180
rs111033180 		0.882 0.200 11 77172850 stop gained C/A;T snv 1.4E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033201
rs111033201 		0.851 0.200 11 77174825 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033214
rs111033214 		0.882 0.200 11 77189348 missense variant G/A snv 2.0E-05 4.2E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033283
rs111033283 		0.882 0.200 11 77156909 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033437
rs111033437 		0.882 0.120 11 77179925 missense variant G/A;T snv
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201539845
rs201539845 		1.000 0.120 11 77156921 missense variant G/A snv 4.4E-05 5.6E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs368657015
rs368657015 		0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; 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: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs755934966
rs755934966 		0.882 0.200 11 77208780 missense variant G/A snv 1.1E-05 6.3E-05
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs766641715
rs766641715 		0.882 0.200 11 77192243 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782808261
rs782808261 		1.000 0.120 11 77156060 missense variant C/T snv 8.0E-06
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs797044512
rs797044512 		1.000 0.120 11 77156958 missense variant C/T snv
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853236
rs878853236 		0.882 0.200 11 77174789 missense variant C/T snv 4.2E-06
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0