rs142065232
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs142065232(A;T) |
| Make rs142065232(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101757236 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142065232 |
| dbSNP (classic) | rs142065232 |
| ClinGen | rs142065232 |
| ebi | rs142065232 |
| HLI | rs142065232 |
| Exac | rs142065232 |
| Gnomad | rs142065232 |
| Varsome | rs142065232 |
| LitVar | rs142065232 |
| Map | rs142065232 |
| PheGenI | rs142065232 |
| Biobank | rs142065232 |
| 1000 genomes | rs142065232 |
| hgdp | rs142065232 |
| ensembl | rs142065232 |
| geneview | rs142065232 |
| scholar | rs142065232 |
| rs142065232 | |
| pharmgkb | rs142065232 |
| gwascentral | rs142065232 |
| openSNP | rs142065232 |
| 23andMe | rs142065232 |
| SNPshot | rs142065232 |
| SNPdbe | rs142065232 |
| MSV3d | rs142065232 |
| GWAS Ctlg | rs142065232 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142065232(T;T) |
| Alt | rs142065232(T;T) |
| Reference | Rs142065232(A;A) |
| Significance | Pathogenic |
| Disease | I cell disease |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | I cell disease |
| Reversed | 0 |
| HGVS | NC_000012.11:g.102151014A>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032337.1, |
[PMID 19617216
] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
