rs864309487
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AATC;AATC) | 0 | common in clinvar |
| Make rs864309487(-;-) |
| Make rs864309487(-;TCAA) |
| Make rs864309487(TCAA;TCAA) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 24777281 |
| Gene | GMNN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864309487 |
| dbSNP (classic) | rs864309487 |
| ClinGen | rs864309487 |
| ebi | rs864309487 |
| HLI | rs864309487 |
| Exac | rs864309487 |
| Gnomad | rs864309487 |
| Varsome | rs864309487 |
| LitVar | rs864309487 |
| Map | rs864309487 |
| PheGenI | rs864309487 |
| Biobank | rs864309487 |
| 1000 genomes | rs864309487 |
| hgdp | rs864309487 |
| ensembl | rs864309487 |
| geneview | rs864309487 |
| scholar | rs864309487 |
| rs864309487 | |
| pharmgkb | rs864309487 |
| gwascentral | rs864309487 |
| openSNP | rs864309487 |
| 23andMe | rs864309487 |
| SNPshot | rs864309487 |
| SNPdbe | rs864309487 |
| MSV3d | rs864309487 |
| GWAS Ctlg | rs864309487 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs864309487(-;-) |
| Alt | rs864309487(-;-) |
| Reference | Rs864309487(AATC;AATC) |
| Significance | Pathogenic |
| Disease | Meier-Gorlin syndrome Meier-gorlin syndrome 6 |
| Variation | info |
| Gene | GMNN |
| CLNDBN | Meier-Gorlin syndrome Meier-gorlin syndrome 6 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.24777509_24777512delTCAA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000202431.1, RCV000208583.1, |
