rs34258285
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common on affy axiom data |
| Make rs34258285(A;C) |
| Make rs34258285(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 8813057 |
| Gene | PMM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34258285 |
| dbSNP (classic) | rs34258285 |
| ClinGen | rs34258285 |
| ebi | rs34258285 |
| HLI | rs34258285 |
| Exac | rs34258285 |
| Gnomad | rs34258285 |
| Varsome | rs34258285 |
| LitVar | rs34258285 |
| Map | rs34258285 |
| PheGenI | rs34258285 |
| Biobank | rs34258285 |
| 1000 genomes | rs34258285 |
| hgdp | rs34258285 |
| ensembl | rs34258285 |
| geneview | rs34258285 |
| scholar | rs34258285 |
| rs34258285 | |
| pharmgkb | rs34258285 |
| gwascentral | rs34258285 |
| openSNP | rs34258285 |
| 23andMe | rs34258285 |
| SNPshot | rs34258285 |
| SNPdbe | rs34258285 |
| MSV3d | rs34258285 |
| GWAS Ctlg | rs34258285 |
| GMAF | 0.01286 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34258285(C;C) |
| Alt | rs34258285(C;C) |
| Reference | Rs34258285(A;A) |
| Significance | Other |
| Disease | not specified Congenital disorder of glycosylation |
| Variation | info |
| Gene | PMM2 |
| CLNDBN | not specified Congenital disorder of glycosylation |
| Reversed | 0 |
| HGVS | NC_000016.9:g.8906914A>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000078593.6, RCV000288257.1, |
