{{Rsnum
|rsid=2276288
|Gene=MYO7A
|Chromosome=11
|position=77201591
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.4068
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=MYO7A
}}{{Venter SNP
|rsid=2276288
|allele=T
|frequency=
|uid=1103649728788
|type=homozygous_SNP
|hugo=MYO7A
|ensembl gene=ENSG00000137474
|ensembl transcript=ENST00000358342
|sift=TOLERATED
|disease=Defects in MYO7A are the cause of autosomal dominant nonsyndromic sensorineural deafness 11 (DFNA11) (MIM:601317). DFNA11 is a form of nonsyndromic sensorineural deafness with onset after complete speech acquisition and subsequent gradual progression.
}}
{{PMID Auto
|PMID=19320733
|Title=Pigmentation-related genes and their implication in malignant melanoma susceptibility.
}}

{{GET Evidence
|gene=MYO7A
|aa_change=Ser1666Cys
|aa_change_short=S1666C
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2276288
|overall_frequency_n=6188
|overall_frequency_d=10518
|overall_frequency=0.588325
|n_genomes=40
|n_genomes_annotated=0
|n_haplomes=65
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=6
}}

{{PMID Auto
|PMID=22483387
|Title=Pilot candidate gene analysis of patients >/= 60 years old with aortic stenosis involving a tricuspid aortic valve.
}}

{{PMID Auto
|PMID=24903972
|Title=Genetic predisposition to calcific aortic stenosis and mitral annular calcification
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}