MYO3A, myosin IIIA, 53904

N. diseases: 11; N. variants: 10
Disease: Deafness, Autosomal Recessive 30 ×
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: rs1023746725
rs1023746725 		1.000 0.120 10 26024020 splice acceptor variant A/C;G snv 4.0E-06; 4.0E-06 2.1E-05
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564544199
rs1564544199 		1.000 0.120 10 26096590 stop gained A/T snv
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564544348
rs1564544348 		1.000 0.120 10 26096638 stop gained G/T snv
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564568849
rs1564568849 		1.000 0.120 10 26120664 intron variant G/A snv
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564602202
rs1564602202 		1.000 0.120 10 26153849 splice acceptor variant G/T snv
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs193919333
rs193919333 		1.000 0.120 10 26168729 stop gained T/G snv 4.0E-06
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs752046945
rs752046945 		1.000 0.120 10 26173762 frameshift variant T/- delins 3.6E-05 1.4E-05
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0