MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908965
rs121908965
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. 24926664 2014
dbSNP: rs121908966
rs121908966
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. 24926664 2014
dbSNP: rs121908969
rs121908969
Entrez Id: 51168;105371566;105371567
Gene Symbol: MYO15A;LOC105371566;LOC105371567
MYO15A;LOC105371566;LOC105371567
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. 24926664 2014
dbSNP: rs121908965
rs121908965
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 11735029 2001
dbSNP: rs121908966
rs121908966
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 11735029 2001
dbSNP: rs121908969
rs121908969
Entrez Id: 51168;105371566;105371567
Gene Symbol: MYO15A;LOC105371566;LOC105371567
MYO15A;LOC105371566;LOC105371567
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 11735029 2001
dbSNP: rs121908965
rs121908965
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736 1998
dbSNP: rs121908966
rs121908966
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736 1998
dbSNP: rs121908969
rs121908969
Entrez Id: 51168;105371566;105371567
Gene Symbol: MYO15A;LOC105371566;LOC105371567
MYO15A;LOC105371566;LOC105371567
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		0.800 GeneticVariation UNIPROT Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736 1998
dbSNP: rs121908965
rs121908965
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908966
rs121908966
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908969
rs121908969
Entrez Id: 51168;105371566;105371567
Gene Symbol: MYO15A;LOC105371566;LOC105371567
MYO15A;LOC105371566;LOC105371567
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs773648511
rs773648511
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		T 0.700 GeneticVariation CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794 2019
dbSNP: rs854775
rs854775
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs865923
rs865923
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs865923
rs865923
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs854765
rs854765
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0005938
Disease:
Bone Density 		T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs1567620939
rs1567620939
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		GGCCATCT 0.700 CausalMutation CLINVAR A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. 27734841 2017
dbSNP: rs1555543296
rs1555543296
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 27375115 2016
dbSNP: rs1555545225
rs1555545225
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0000772
Disease:
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 27375115 2016
dbSNP: rs749136456
rs749136456
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		A 0.700 CausalMutation CLINVAR Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. 27870113 2016
dbSNP: rs117071200
rs117071200
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C1838263
Disease:
Deafness, Autosomal Recessive 3 		A 0.700 GeneticVariation CLINVAR Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 25792667 2015
dbSNP: rs1555543296
rs1555543296
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 25792667 2015
dbSNP: rs1555543296
rs1555543296
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing. 26242193 2015
dbSNP: rs1555545225
rs1555545225
Entrez Id: 51168;105371566
Gene Symbol: MYO15A;LOC105371566
MYO15A;LOC105371566
CUI: C0000772
Disease:
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 25792667 2015