{{Rsnum
|rsid=238238
|Gene=ENO3
|Chromosome=17
|position=4953081
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4004
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ENO3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.0 | 46.0 | 46.0
| HCB | 34.3 | 51.8 | 13.9
| JPT | 36.3 | 50.4 | 13.3
| YRI | 21.8 | 48.3 | 29.9
| ASW | 10.7 | 51.8 | 37.5
| CHB | 34.3 | 51.8 | 13.9
| CHD | 44.0 | 41.3 | 14.7
| GIH | 21.8 | 58.4 | 19.8
| LWK | 12.7 | 50.9 | 36.4
| MEX | 1.7 | 37.9 | 60.3
| MKK | 16.0 | 44.2 | 39.7
| TSI | 6.9 | 40.2 | 52.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=238238
|allele=A
|frequency=0.292
|uid=1103645267240
|type=heterozygous_SNP
|hugo=ENO3
|ensembl gene=ENSG00000108515
|ensembl transcript=ENST00000381335
|sift=TOLERATED
|disease=Defects in ENO3 are the cause of muscle-specific enolase- beta deficiency (glycogenesis type XIII) (MIM:131370). It is a glycogen storage myopathy which results in exercise-induced myalgias, generalized muscle weakness and fatigability. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected in patients.
}}

{{GET Evidence
|gene=ENO3
|aa_change=Asn71Ser
|aa_change_short=N71S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs238238
|overall_frequency_n=7199
|overall_frequency_d=10758
|overall_frequency=0.669176
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}