rs200646278
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200646278(A;A) |
| Make rs200646278(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101770429 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200646278 |
| dbSNP (classic) | rs200646278 |
| ClinGen | rs200646278 |
| ebi | rs200646278 |
| HLI | rs200646278 |
| Exac | rs200646278 |
| Gnomad | rs200646278 |
| Varsome | rs200646278 |
| LitVar | rs200646278 |
| Map | rs200646278 |
| PheGenI | rs200646278 |
| Biobank | rs200646278 |
| 1000 genomes | rs200646278 |
| hgdp | rs200646278 |
| ensembl | rs200646278 |
| geneview | rs200646278 |
| scholar | rs200646278 |
| rs200646278 | |
| pharmgkb | rs200646278 |
| gwascentral | rs200646278 |
| openSNP | rs200646278 |
| 23andMe | rs200646278 |
| SNPshot | rs200646278 |
| SNPdbe | rs200646278 |
| MSV3d | rs200646278 |
| GWAS Ctlg | rs200646278 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200646278(A;A) |
| Alt | rs200646278(A;A) |
| Reference | Rs200646278(G;G) |
| Significance | Pathogenic |
| Disease | I cell disease |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | I cell disease |
| Reversed | 0 |
| HGVS | NC_000012.11:g.102164207G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032286.1, |
[PMID 19617216
] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
