{{Rsnum
|rsid=2071307
|Gene=ELN
|Chromosome=7
|position=74056384
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2553
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ELN
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 14.2 | 48.7 | 37.2
| HCB | 2.2 | 21.9 | 75.9
| JPT | 4.4 | 23.0 | 72.6
| YRI | 0.0 | 21.2 | 78.8
| ASW | 3.5 | 28.1 | 68.4
| CHB | 2.2 | 21.9 | 75.9
| CHD | 0.0 | 18.3 | 81.7
| GIH | 3.0 | 34.7 | 62.4
| LWK | 3.6 | 25.5 | 70.9
| MEX | 6.9 | 34.5 | 58.6
| MKK | 9.1 | 35.1 | 55.8
| TSI | 16.8 | 51.5 | 31.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=2071307
|allele=A
|frequency=0.367
|uid=1103652613353
|type=heterozygous_SNP
|hugo=ELN
|ensembl gene=ENSG00000049540
|ensembl transcript=ENST00000252034
|sift=
|disease=Defects in ELN are the cause of supravalvular aortic stenosis (SVAS) (MIM:185500). SVAS is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.
}}

{{PMID Auto
|PMID=19282817
|Title=A Study on Polymorphisms of Elastin Gene in Chinese Han Patients With Isolated Systolic Hypertension
}}

{{PMID Auto
|PMID=20051886
|Title=Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma
}}

{{PMID Auto
|PMID=17672902
|Title=Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
|OA=1
}}

{{PMID Auto
|PMID=19029017
|Title=Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.
|OA=1
}}

{{GET Evidence
|gene=ELN
|aa_change=Gly422Ser
|aa_change_short=G422S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2071307
|overall_frequency_n=3570
|overall_frequency_d=10758
|overall_frequency=0.331846
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=23
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=4
}}

{{PMID Auto
|PMID=23294012
|Title=Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients.
}}

{{PMID Auto
|PMID=24903972
|Title=Genetic predisposition to calcific aortic stenosis and mitral annular calcification
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}