rs370270828
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs370270828(A;A) |
| Make rs370270828(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 105241292 |
| Gene | BRF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370270828 |
| dbSNP (classic) | rs370270828 |
| ClinGen | rs370270828 |
| ebi | rs370270828 |
| HLI | rs370270828 |
| Exac | rs370270828 |
| Gnomad | rs370270828 |
| Varsome | rs370270828 |
| LitVar | rs370270828 |
| Map | rs370270828 |
| PheGenI | rs370270828 |
| Biobank | rs370270828 |
| 1000 genomes | rs370270828 |
| hgdp | rs370270828 |
| ensembl | rs370270828 |
| geneview | rs370270828 |
| scholar | rs370270828 |
| rs370270828 | |
| pharmgkb | rs370270828 |
| gwascentral | rs370270828 |
| openSNP | rs370270828 |
| 23andMe | rs370270828 |
| SNPshot | rs370270828 |
| SNPdbe | rs370270828 |
| MSV3d | rs370270828 |
| GWAS Ctlg | rs370270828 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370270828(A;A) |
| Alt | rs370270828(A;A) |
| Reference | Rs370270828(G;G) |
| Significance | Pathogenic |
| Disease | cerebellar-facial-dental syndrome Cerebellofaciodental syndrome |
| Variation | info |
| Gene | BRF1 |
| CLNDBN | cerebellar-facial-dental syndrome Cerebellofaciodental syndrome |
| Reversed | 0 |
| HGVS | NC_000014.8:g.105707629G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000148935.1, RCV000150046.3, |
