rs375879489
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs375879489(C;T) |
| Make rs375879489(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 165754927 |
| Gene | GALNT3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375879489 |
| dbSNP (classic) | rs375879489 |
| ClinGen | rs375879489 |
| ebi | rs375879489 |
| HLI | rs375879489 |
| Exac | rs375879489 |
| Gnomad | rs375879489 |
| Varsome | rs375879489 |
| LitVar | rs375879489 |
| Map | rs375879489 |
| PheGenI | rs375879489 |
| Biobank | rs375879489 |
| 1000 genomes | rs375879489 |
| hgdp | rs375879489 |
| ensembl | rs375879489 |
| geneview | rs375879489 |
| scholar | rs375879489 |
| rs375879489 | |
| pharmgkb | rs375879489 |
| gwascentral | rs375879489 |
| openSNP | rs375879489 |
| 23andMe | rs375879489 |
| SNPshot | rs375879489 |
| SNPdbe | rs375879489 |
| MSV3d | rs375879489 |
| GWAS Ctlg | rs375879489 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375879489(G;G) rs375879489(T;T) |
| Alt | rs375879489(G;G) rs375879489(T;T) |
| Reference | Rs375879489(C;C) |
| Significance | Pathogenic |
| Disease | Tumoral calcinosis |
| Variation | info |
| Gene | GALNT3 |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
| Reversed | 0 |
| HGVS | NC_000002.11:g.166611437C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008236.4, |
