{{Rsnum
|rsid=1724577
|Gene=MYO5A
|Chromosome=15
|position=52397434
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.08448
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=MYO5A
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 96.4 | 3.6 | 0.0
| JPT | 96.5 | 3.5 | 0.0
| YRI | 42.5 | 47.9 | 9.6
| ASW | 52.7 | 41.8 | 5.5
| CHB | 96.4 | 3.6 | 0.0
| CHD | 98.2 | 1.8 | 0.0
| GIH | 85.1 | 14.9 | 0.0
| LWK | 50.9 | 32.4 | 16.7
| MEX | 93.1 | 6.9 | 0.0
| MKK | 73.1 | 26.9 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1724577
|allele=G
|frequency=1
|uid=1103645611696
|type=homozygous_SNP
|hugo=MYO5A
|ensembl gene=ENSG00000197535
|ensembl transcript=ENST00000359036
|sift=
|disease=Defects in MYO5A are a cause of Elejalde syndrome (MIM:256710); also known as neuroectodermal melanolysosomal disease. Elejalde syndrome is an autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.
}}

{{PMID Auto
|PMID=18392143
|Title=Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
|OA=1
}}

{{GET Evidence
|gene=MYO5A
|aa_change=Glu362Asp
|aa_change_short=E362D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1724577
|overall_frequency_n=9148
|overall_frequency_d=10046
|overall_frequency=0.910611
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=99
|n_articles=0
|n_articles_annotated=0
|nblosum100=-2
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}