rs9493627
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs9493627(A;A) |
| Make rs9493627(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 133468590 |
| Gene | EYA4, LOC107984121 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9493627 |
| dbSNP (classic) | rs9493627 |
| ClinGen | rs9493627 |
| ebi | rs9493627 |
| HLI | rs9493627 |
| Exac | rs9493627 |
| Gnomad | rs9493627 |
| Varsome | rs9493627 |
| LitVar | rs9493627 |
| Map | rs9493627 |
| PheGenI | rs9493627 |
| Biobank | rs9493627 |
| 1000 genomes | rs9493627 |
| hgdp | rs9493627 |
| ensembl | rs9493627 |
| geneview | rs9493627 |
| scholar | rs9493627 |
| rs9493627 | |
| pharmgkb | rs9493627 |
| gwascentral | rs9493627 |
| openSNP | rs9493627 |
| 23andMe | rs9493627 |
| SNPshot | rs9493627 |
| SNPdbe | rs9493627 |
| MSV3d | rs9493627 |
| GWAS Ctlg | rs9493627 |
| GMAF | 0.3926 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs9493627(A;A) |
| Alt | rs9493627(A;A) |
| Reference | Rs9493627(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Cardiovascular phenotype Dilated Cardiomyopathy Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | EYA4 LOC101928164 |
| CLNDBN | not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Nonsyndromic Hearing Loss, Dominant |
| Reversed | 0 |
| HGVS | NC_000006.11:g.133789728G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000037882.4, RCV000247179.1, RCV000276894.1, RCV000332466.1, |
