rs760830864
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs760830864(A;A) |
| Make rs760830864(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 165754626 |
| Gene | GALNT3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760830864 |
| dbSNP (classic) | rs760830864 |
| ClinGen | rs760830864 |
| ebi | rs760830864 |
| HLI | rs760830864 |
| Exac | rs760830864 |
| Gnomad | rs760830864 |
| Varsome | rs760830864 |
| LitVar | rs760830864 |
| Map | rs760830864 |
| PheGenI | rs760830864 |
| Biobank | rs760830864 |
| 1000 genomes | rs760830864 |
| hgdp | rs760830864 |
| ensembl | rs760830864 |
| geneview | rs760830864 |
| scholar | rs760830864 |
| rs760830864 | |
| pharmgkb | rs760830864 |
| gwascentral | rs760830864 |
| openSNP | rs760830864 |
| 23andMe | rs760830864 |
| SNPshot | rs760830864 |
| SNPdbe | rs760830864 |
| MSV3d | rs760830864 |
| GWAS Ctlg | rs760830864 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760830864(A;A) |
| Alt | rs760830864(A;A) |
| Reference | Rs760830864(C;C) |
| Significance | Pathogenic |
| Disease | Tumoral calcinosis |
| Variation | info |
| Gene | GALNT3 |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
| Reversed | 0 |
| HGVS | NC_000002.11:g.166611136C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008244.5, |
