rs146095590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs146095590(C;T) |
| Make rs146095590(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 73610399 |
| Gene | SLC17A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146095590 |
| dbSNP (classic) | rs146095590 |
| ClinGen | rs146095590 |
| ebi | rs146095590 |
| HLI | rs146095590 |
| Exac | rs146095590 |
| Gnomad | rs146095590 |
| Varsome | rs146095590 |
| LitVar | rs146095590 |
| Map | rs146095590 |
| PheGenI | rs146095590 |
| Biobank | rs146095590 |
| 1000 genomes | rs146095590 |
| hgdp | rs146095590 |
| ensembl | rs146095590 |
| geneview | rs146095590 |
| scholar | rs146095590 |
| rs146095590 | |
| pharmgkb | rs146095590 |
| gwascentral | rs146095590 |
| openSNP | rs146095590 |
| 23andMe | rs146095590 |
| SNPshot | rs146095590 |
| SNPdbe | rs146095590 |
| MSV3d | rs146095590 |
| GWAS Ctlg | rs146095590 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146095590(T;T) |
| Alt | rs146095590(T;T) |
| Reference | Rs146095590(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Salla disease |
| Variation | info |
| Gene | SLC17A5 |
| CLNDBN | Salla disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.74320122C>T |
| CLNSRC | |
| CLNACC | RCV000409414.1, |
