rs8326
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs8326(C;C) |
| Make rs8326(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 74069359 |
| Gene | ELN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8326 |
| dbSNP (classic) | rs8326 |
| ClinGen | rs8326 |
| ebi | rs8326 |
| HLI | rs8326 |
| Exac | rs8326 |
| Gnomad | rs8326 |
| Varsome | rs8326 |
| LitVar | rs8326 |
| Map | rs8326 |
| PheGenI | rs8326 |
| Biobank | rs8326 |
| 1000 genomes | rs8326 |
| hgdp | rs8326 |
| ensembl | rs8326 |
| geneview | rs8326 |
| scholar | rs8326 |
| rs8326 | |
| pharmgkb | rs8326 |
| gwascentral | rs8326 |
| openSNP | rs8326 |
| 23andMe | rs8326 |
| SNPshot | rs8326 |
| SNPdbe | rs8326 |
| MSV3d | rs8326 |
| GWAS Ctlg | rs8326 |
| GMAF | 0.1974 |
| Max Magnitude | 0 |
[PMID 20694560] Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans
| ClinVar | |
|---|---|
| Risk | rs8326(A;A) rs8326(C;C) rs8326(T;T) |
| Alt | rs8326(A;A) rs8326(C;C) rs8326(T;T) |
| Reference | Rs8326(G;G) |
| Significance | Non-pathogenic |
| Disease | Supravalvular aortic stenosis Cutis laxa |
| Variation | info |
| Gene | ELN |
| CLNDBN | Supravalvular aortic stenosis Cutis laxa, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000007.13:g.73483689G>C |
| CLNSRC | |
| CLNACC | RCV000285101.1, RCV000407475.1, |
