rs876657691
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs876657691(A;A) |
| Make rs876657691(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 8 |
| Position | 71271828 |
| Gene | EYA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs876657691 |
| dbSNP (classic) | rs876657691 |
| ClinGen | rs876657691 |
| ebi | rs876657691 |
| HLI | rs876657691 |
| Exac | rs876657691 |
| Gnomad | rs876657691 |
| Varsome | rs876657691 |
| LitVar | rs876657691 |
| Map | rs876657691 |
| PheGenI | rs876657691 |
| Biobank | rs876657691 |
| 1000 genomes | rs876657691 |
| hgdp | rs876657691 |
| ensembl | rs876657691 |
| geneview | rs876657691 |
| scholar | rs876657691 |
| rs876657691 | |
| pharmgkb | rs876657691 |
| gwascentral | rs876657691 |
| openSNP | rs876657691 |
| 23andMe | rs876657691 |
| SNPshot | rs876657691 |
| SNPdbe | rs876657691 |
| MSV3d | rs876657691 |
| GWAS Ctlg | rs876657691 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs876657691(A;A) |
| Alt | rs876657691(A;A) |
| Reference | Rs876657691(C;C) |
| Significance | Pathogenic |
| Disease | Melnick-Fraser syndrome |
| Variation | info |
| Gene | EYA1 |
| CLNDBN | Melnick-Fraser syndrome |
| Reversed | 1 |
| HGVS | NC_000008.10:g.72184063G>T |
| CLNSRC | |
| CLNACC | RCV000219278.1, |
