Rs104894446
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894446 |
| PheGenI | rs104894446 |
| nextbio | rs104894446 |
| hapmap | rs104894446 |
| 1000 genomes | rs104894446 |
| hgdp | rs104894446 |
| ensembl | rs104894446 |
| gopubmed | rs104894446 |
| geneview | rs104894446 |
| scholar | rs104894446 |
| rs104894446 | |
| pharmgkb | rs104894446 |
| gwascentral | rs104894446 |
| openSNP | rs104894446 |
| 23andMe | rs104894446 |
| 23andMe all | rs104894446 |
| SNP Nexus | |
| SNPshot | rs104894446 |
| SNPdbe | rs104894446 |
| MSV3d | rs104894446 |
| Gene | MGAT2, RPL36AL |
| Chromosome | 14 |
| Orientation | plus |
| Position | 50088855 |
| Reference | GRCh37.p2 37.2/134 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894446(C;T) |
| Make rs104894446(T;T) |
| ClinVar | |
|---|---|
| Risk | rs104894446(T;T) |
| Normal | rs104894446(C;C) |
| Significance | 5 |
| Disease | Alkuraya syndrome |
| ClinVar | info |
| Gene | MGAT2 |
| CLNDBN | Alkuraya syndrome |
| Reversed | 0 |
| CLNHGVS | NC_000014.8:g.50088855C>T |
| CLNSRC | OMIM Allelic Variant |
