rs182512508
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs182512508(C;C) |
| Make rs182512508(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 17085756 |
| Gene | CUBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs182512508 |
| dbSNP (classic) | rs182512508 |
| ClinGen | rs182512508 |
| ebi | rs182512508 |
| HLI | rs182512508 |
| Exac | rs182512508 |
| Gnomad | rs182512508 |
| Varsome | rs182512508 |
| LitVar | rs182512508 |
| Map | rs182512508 |
| PheGenI | rs182512508 |
| Biobank | rs182512508 |
| 1000 genomes | rs182512508 |
| hgdp | rs182512508 |
| ensembl | rs182512508 |
| geneview | rs182512508 |
| scholar | rs182512508 |
| rs182512508 | |
| pharmgkb | rs182512508 |
| gwascentral | rs182512508 |
| openSNP | rs182512508 |
| 23andMe | rs182512508 |
| SNPshot | rs182512508 |
| SNPdbe | rs182512508 |
| MSV3d | rs182512508 |
| GWAS Ctlg | rs182512508 |
| GMAF | 0.002755 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs182512508(A;A) rs182512508(C;C) |
| Alt | rs182512508(A;A) rs182512508(C;C) |
| Reference | Rs182512508(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Megaloblastic anemia due to inborn errors of metabolism |
| Variation | info |
| Gene | CUBN |
| CLNDBN | Megaloblastic anemia due to inborn errors of metabolism |
| Reversed | 0 |
| HGVS | NC_000010.10:g.17127755G>A; NC_000010.10:g.17127755G>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000049736.1, RCV000490503.1, |
[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
