rs281864956
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6.1 | Mcolipidosis III gamma |
| (-;G) | 3 | Carrier of a mucolipidosis III gamma mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 1362239 |
| Gene | GNPTG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281864956 |
| dbSNP (classic) | rs281864956 |
| ClinGen | rs281864956 |
| ebi | rs281864956 |
| HLI | rs281864956 |
| Exac | rs281864956 |
| Gnomad | rs281864956 |
| Varsome | rs281864956 |
| LitVar | rs281864956 |
| Map | rs281864956 |
| PheGenI | rs281864956 |
| Biobank | rs281864956 |
| 1000 genomes | rs281864956 |
| hgdp | rs281864956 |
| ensembl | rs281864956 |
| geneview | rs281864956 |
| scholar | rs281864956 |
| rs281864956 | |
| pharmgkb | rs281864956 |
| gwascentral | rs281864956 |
| openSNP | rs281864956 |
| 23andMe | rs281864956 |
| SNPshot | rs281864956 |
| SNPdbe | rs281864956 |
| MSV3d | rs281864956 |
| GWAS Ctlg | rs281864956 |
| Max Magnitude | 6.1 |
| ClinVar | |
|---|---|
| Risk | Rs281864956(-;-) |
| Alt | Rs281864956(-;-) |
| Reference | Rs281864956(G;G) |
| Significance | Pathogenic |
| Disease | Mucolipidosis III Gamma |
| Variation | info |
| Gene | GNPTG |
| CLNDBN | Mucolipidosis III Gamma |
| Reversed | 0 |
| HGVS | NC_000016.9:g.1412240delG |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032347.1, |
