rs191295403
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs191295403(C;T) |
| Make rs191295403(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 8811098 |
| Gene | PMM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs191295403 |
| dbSNP (classic) | rs191295403 |
| ClinGen | rs191295403 |
| ebi | rs191295403 |
| HLI | rs191295403 |
| Exac | rs191295403 |
| Gnomad | rs191295403 |
| Varsome | rs191295403 |
| LitVar | rs191295403 |
| Map | rs191295403 |
| PheGenI | rs191295403 |
| Biobank | rs191295403 |
| 1000 genomes | rs191295403 |
| hgdp | rs191295403 |
| ensembl | rs191295403 |
| geneview | rs191295403 |
| scholar | rs191295403 |
| rs191295403 | |
| pharmgkb | rs191295403 |
| gwascentral | rs191295403 |
| openSNP | rs191295403 |
| 23andMe | rs191295403 |
| SNPshot | rs191295403 |
| SNPdbe | rs191295403 |
| MSV3d | rs191295403 |
| GWAS Ctlg | rs191295403 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs191295403(T;T) |
| Alt | rs191295403(T;T) |
| Reference | Rs191295403(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PMM2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.8904955C>T |
| CLNSRC | |
| CLNACC | RCV000492943.1, |
