MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Deafness ×
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: rs1565430886
rs1565430886 		11 77189430 missense variant T/C snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565469959
rs1565469959 		11 77203220 splice region variant A/G snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs192378817
rs192378817 		11 77183146 missense variant C/A;T snv 3.9E-05 1.5E-04
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs746667217
rs746667217 		11 77205503 missense variant C/G;T snv 6.4E-05 2.1E-05
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs751242455
rs751242455 		11 77204094 missense variant G/A;C snv 8.8E-06; 4.4E-05
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0