rs397517917
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397517917(G;T) |
| Make rs397517917(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 71215729 |
| Gene | EYA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397517917 |
| dbSNP (classic) | rs397517917 |
| ClinGen | rs397517917 |
| ebi | rs397517917 |
| HLI | rs397517917 |
| Exac | rs397517917 |
| Gnomad | rs397517917 |
| Varsome | rs397517917 |
| LitVar | rs397517917 |
| Map | rs397517917 |
| PheGenI | rs397517917 |
| Biobank | rs397517917 |
| 1000 genomes | rs397517917 |
| hgdp | rs397517917 |
| ensembl | rs397517917 |
| geneview | rs397517917 |
| scholar | rs397517917 |
| rs397517917 | |
| pharmgkb | rs397517917 |
| gwascentral | rs397517917 |
| openSNP | rs397517917 |
| 23andMe | rs397517917 |
| SNPshot | rs397517917 |
| SNPdbe | rs397517917 |
| MSV3d | rs397517917 |
| GWAS Ctlg | rs397517917 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397517917(T;T) |
| Alt | rs397517917(T;T) |
| Reference | Rs397517917(G;G) |
| Significance | Pathogenic |
| Disease | Melnick-Fraser syndrome |
| Variation | info |
| Gene | EYA1 |
| CLNDBN | Melnick-Fraser syndrome |
| Reversed | 1 |
| HGVS | NC_000008.10:g.72127964C>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000041388.2, |
