rs28934600
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs28934600(A;T) |
| Make rs28934600(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12665756 |
| Gene | MAN2B1, WDR83 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934600 |
| dbSNP (classic) | rs28934600 |
| ClinGen | rs28934600 |
| ebi | rs28934600 |
| HLI | rs28934600 |
| Exac | rs28934600 |
| Gnomad | rs28934600 |
| Varsome | rs28934600 |
| LitVar | rs28934600 |
| Map | rs28934600 |
| PheGenI | rs28934600 |
| Biobank | rs28934600 |
| 1000 genomes | rs28934600 |
| hgdp | rs28934600 |
| ensembl | rs28934600 |
| geneview | rs28934600 |
| scholar | rs28934600 |
| rs28934600 | |
| pharmgkb | rs28934600 |
| gwascentral | rs28934600 |
| openSNP | rs28934600 |
| 23andMe | rs28934600 |
| SNPshot | rs28934600 |
| SNPdbe | rs28934600 |
| MSV3d | rs28934600 |
| GWAS Ctlg | rs28934600 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28934600(T;T) |
| Alt | rs28934600(T;T) |
| Reference | Rs28934600(A;A) |
| Significance | Pathogenic |
| Disease | Deficiency of alpha-mannosidase |
| Variation | info |
| Gene | WDR83 MAN2B1 |
| CLNDBN | Deficiency of alpha-mannosidase |
| Reversed | 1 |
| HGVS | NC_000019.9:g.12776570T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001752.1, |
