rs141498002
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs141498002(G;T) |
| Make rs141498002(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 16 |
| Position | 8811099 |
| Gene | PMM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141498002 |
| dbSNP (classic) | rs141498002 |
| ClinGen | rs141498002 |
| ebi | rs141498002 |
| HLI | rs141498002 |
| Exac | rs141498002 |
| Gnomad | rs141498002 |
| Varsome | rs141498002 |
| LitVar | rs141498002 |
| Map | rs141498002 |
| PheGenI | rs141498002 |
| Biobank | rs141498002 |
| 1000 genomes | rs141498002 |
| hgdp | rs141498002 |
| ensembl | rs141498002 |
| geneview | rs141498002 |
| scholar | rs141498002 |
| rs141498002 | |
| pharmgkb | rs141498002 |
| gwascentral | rs141498002 |
| openSNP | rs141498002 |
| 23andMe | rs141498002 |
| SNPshot | rs141498002 |
| SNPdbe | rs141498002 |
| MSV3d | rs141498002 |
| GWAS Ctlg | rs141498002 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs141498002(A;A) rs141498002(T;T) |
| Alt | rs141498002(A;A) rs141498002(T;T) |
| Reference | Rs141498002(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PMM2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.8904956G>A |
| CLNSRC | |
| CLNACC | RCV000254854.1, |
