rs587777231
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier for an auriculocondylar syndrome-3 mutation |
| Make rs587777231(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 6 |
| Position | 12293978 |
| Gene | EDN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587777231 |
| dbSNP (classic) | rs587777231 |
| ClinGen | rs587777231 |
| ebi | rs587777231 |
| HLI | rs587777231 |
| Exac | rs587777231 |
| Gnomad | rs587777231 |
| Varsome | rs587777231 |
| LitVar | rs587777231 |
| Map | rs587777231 |
| PheGenI | rs587777231 |
| Biobank | rs587777231 |
| 1000 genomes | rs587777231 |
| hgdp | rs587777231 |
| ensembl | rs587777231 |
| geneview | rs587777231 |
| scholar | rs587777231 |
| rs587777231 | |
| pharmgkb | rs587777231 |
| gwascentral | rs587777231 |
| openSNP | rs587777231 |
| 23andMe | rs587777231 |
| SNPshot | rs587777231 |
| SNPdbe | rs587777231 |
| MSV3d | rs587777231 |
| GWAS Ctlg | rs587777231 |
| Max Magnitude | 3 |
see OMIM 131240.0002
| ClinVar | |
|---|---|
| Risk | rs587777231(G;G) |
| Alt | rs587777231(G;G) |
| Reference | Rs587777231(A;A) |
| Significance | Pathogenic |
| Disease | Auriculocondylar syndrome 3 |
| Variation | info |
| Gene | EDN1 |
| CLNDBN | Auriculocondylar syndrome 3 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.12294211A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000106312.3, |
