Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555545225
rs1555545225
MYO15A ; LOC105371566
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 27375115

2016
dbSNP: rs1555545225
rs1555545225
MYO15A ; LOC105371566
CUI: C0000772
Disease: Multiple congenital anomalies
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
dbSNP: rs1555545225
rs1555545225
MYO15A ; LOC105371566
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing. 26242193

2015
dbSNP: rs1555545225
rs1555545225
MYO15A ; LOC105371566
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? 18804553

2009
dbSNP: rs1555545225
rs1555545225
MYO15A ; LOC105371566
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. 7704031

1995
dbSNP: rs1555545225
rs1555545225
MYO15A ; LOC105371566
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		CG 0.700 CausalMutation CLINVAR Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. 7616538

1995