rs2071307
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2071307(A;A) |
| Make rs2071307(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 74056384 |
| Gene | ELN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2071307 |
| dbSNP (classic) | rs2071307 |
| ClinGen | rs2071307 |
| ebi | rs2071307 |
| HLI | rs2071307 |
| Exac | rs2071307 |
| Gnomad | rs2071307 |
| Varsome | rs2071307 |
| LitVar | rs2071307 |
| Map | rs2071307 |
| PheGenI | rs2071307 |
| Biobank | rs2071307 |
| 1000 genomes | rs2071307 |
| hgdp | rs2071307 |
| ensembl | rs2071307 |
| geneview | rs2071307 |
| scholar | rs2071307 |
| rs2071307 | |
| pharmgkb | rs2071307 |
| gwascentral | rs2071307 |
| openSNP | rs2071307 |
| 23andMe | rs2071307 |
| SNPshot | rs2071307 |
| SNPdbe | rs2071307 |
| MSV3d | rs2071307 |
| GWAS Ctlg | rs2071307 |
| GMAF | 0.2553 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19282817] A Study on Polymorphisms of Elastin Gene in Chinese Han Patients With Isolated Systolic Hypertension
[PMID 20051886
] Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma
[PMID 17672902] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
[PMID 19029017] Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.
[PMID 23294012] Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients.
[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification
[PMID 25429546] ELN and FBN2 Gene Variants as Risk Factors for Two Sports-related Musculoskeletal Injuries
| ClinVar | |
|---|---|
| Risk | rs2071307(A;A) |
| Alt | rs2071307(A;A) |
| Reference | Rs2071307(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Supravalvular aortic stenosis Cutis laxa |
| Variation | info |
| Gene | ELN |
| CLNDBN | not specified Supravalvular aortic stenosis Cutis laxa, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000007.13:g.73470714G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000036524.6, RCV000264113.1, RCV000319237.1, |
