rs41511151
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41511151(A;A) |
| Make rs41511151(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 7 |
| Position | 74068657 |
| Gene | ELN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41511151 |
| dbSNP (classic) | rs41511151 |
| ClinGen | rs41511151 |
| ebi | rs41511151 |
| HLI | rs41511151 |
| Exac | rs41511151 |
| Gnomad | rs41511151 |
| Varsome | rs41511151 |
| LitVar | rs41511151 |
| Map | rs41511151 |
| PheGenI | rs41511151 |
| Biobank | rs41511151 |
| 1000 genomes | rs41511151 |
| hgdp | rs41511151 |
| ensembl | rs41511151 |
| geneview | rs41511151 |
| scholar | rs41511151 |
| rs41511151 | |
| pharmgkb | rs41511151 |
| gwascentral | rs41511151 |
| openSNP | rs41511151 |
| 23andMe | rs41511151 |
| SNPshot | rs41511151 |
| SNPdbe | rs41511151 |
| MSV3d | rs41511151 |
| GWAS Ctlg | rs41511151 |
| Max Magnitude | 0 |
[PMID 28146470
] Rare and low-frequency coding variants alter human adult height.
| ClinVar | |
|---|---|
| Risk | rs41511151(A;A) |
| Alt | rs41511151(A;A) |
| Reference | Rs41511151(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Cutis laxa Supravalvular aortic stenosis |
| Variation | info |
| Gene | ELN |
| CLNDBN | not specified Cutis laxa, autosomal dominant Supravalvular aortic stenosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.73482987G>A |
| CLNSRC | |
| CLNACC | RCV000036527.3, RCV000323541.1, RCV000361922.1, |
