rs1133330
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs1133330(A;A) |
| Make rs1133330(A;G) |
| Make rs1133330(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12661276 |
| Gene | MAN2B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1133330 |
| dbSNP (classic) | rs1133330 |
| ClinGen | rs1133330 |
| ebi | rs1133330 |
| HLI | rs1133330 |
| Exac | rs1133330 |
| Gnomad | rs1133330 |
| Varsome | rs1133330 |
| LitVar | rs1133330 |
| Map | rs1133330 |
| PheGenI | rs1133330 |
| Biobank | rs1133330 |
| 1000 genomes | rs1133330 |
| hgdp | rs1133330 |
| ensembl | rs1133330 |
| geneview | rs1133330 |
| scholar | rs1133330 |
| rs1133330 | |
| pharmgkb | rs1133330 |
| gwascentral | rs1133330 |
| openSNP | rs1133330 |
| 23andMe | rs1133330 |
| SNPshot | rs1133330 |
| SNPdbe | rs1133330 |
| MSV3d | rs1133330 |
| GWAS Ctlg | rs1133330 |
| GMAF | 0.258 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1133330(A;A) rs1133330(T;T) |
| Alt | rs1133330(A;A) rs1133330(T;T) |
| Reference | rs1133330(G;G) |
| Significance | Other |
| Disease | not specified Deficiency of alpha-mannosidase |
| Variation | info |
| Gene | MAN2B1 |
| CLNDBN | not specified Deficiency of alpha-mannosidase |
| Reversed | 1 |
| HGVS | NC_000019.9:g.12772090C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079070.8, RCV000298455.1, |
