rs771156053
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs771156053(-;-) |
| Make rs771156053(-;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 73621877 |
| Gene | SLC17A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771156053 |
| dbSNP (classic) | rs771156053 |
| ClinGen | rs771156053 |
| ebi | rs771156053 |
| HLI | rs771156053 |
| Exac | rs771156053 |
| Gnomad | rs771156053 |
| Varsome | rs771156053 |
| LitVar | rs771156053 |
| Map | rs771156053 |
| PheGenI | rs771156053 |
| Biobank | rs771156053 |
| 1000 genomes | rs771156053 |
| hgdp | rs771156053 |
| ensembl | rs771156053 |
| geneview | rs771156053 |
| scholar | rs771156053 |
| rs771156053 | |
| pharmgkb | rs771156053 |
| gwascentral | rs771156053 |
| openSNP | rs771156053 |
| 23andMe | rs771156053 |
| SNPshot | rs771156053 |
| SNPdbe | rs771156053 |
| MSV3d | rs771156053 |
| GWAS Ctlg | rs771156053 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs771156053(-;-) |
| Alt | rs771156053(-;-) |
| Reference | Rs771156053(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Salla disease |
| Variation | info |
| Gene | SLC17A5 |
| CLNDBN | Salla disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.74331600delT |
| CLNSRC | |
| CLNACC | RCV000409422.1, |
