MYH14, myosin heavy chain 14, 79784

N. diseases: 64; N. variants: 9
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: rs113993956
rs113993956 		1.000 19 50268255 missense variant G/A;T snv 6.2E-04
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.800 1.000 2 2011 2015
dbSNP: rs28940306
rs28940306 		1.000 0.120 19 50271424 missense variant C/T snv 4.3E-06; 8.6E-06
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2004 2005
dbSNP: rs28940307
rs28940307 		1.000 0.120 19 50259210 missense variant C/A snv
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2004 2005
dbSNP: rs1377817
rs1377817 		19 50300809 intron variant T/G snv 0.15
CUI: C0202455
Disease: Platinum measurement
Platinum measurement 		0.700 1.000 1 2019 2019
dbSNP: rs367588704
rs367588704 		1.000 0.120 19 50268305 missense variant G/A snv 1.5E-05 7.0E-06
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs119103279
rs119103279 		1.000 0.120 19 50210385 stop gained C/A;T snv
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs119103280
rs119103280 		1.000 0.120 19 50244277 missense variant G/T snv 3.0E-03 3.0E-03
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs119103281
rs119103281 		1.000 0.120 19 50210724 missense variant C/T snv
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs113993956
rs113993956 		1.000 19 50268255 missense variant G/A;T snv 6.2E-04
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs113993956
rs113993956 		1.000 19 50268255 missense variant G/A;T snv 6.2E-04
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs553628577
rs553628577 		19 50286566 missense variant C/T snv 4.2E-06
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010