rs12731981
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs12731981(A;A) |
| Make rs12731981(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 43338669 |
| Gene | MPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12731981 |
| dbSNP (classic) | rs12731981 |
| ClinGen | rs12731981 |
| ebi | rs12731981 |
| HLI | rs12731981 |
| Exac | rs12731981 |
| Gnomad | rs12731981 |
| Varsome | rs12731981 |
| LitVar | rs12731981 |
| Map | rs12731981 |
| PheGenI | rs12731981 |
| Biobank | rs12731981 |
| 1000 genomes | rs12731981 |
| hgdp | rs12731981 |
| ensembl | rs12731981 |
| geneview | rs12731981 |
| scholar | rs12731981 |
| rs12731981 | |
| pharmgkb | rs12731981 |
| gwascentral | rs12731981 |
| openSNP | rs12731981 |
| 23andMe | rs12731981 |
| SNPshot | rs12731981 |
| SNPdbe | rs12731981 |
| MSV3d | rs12731981 |
| GWAS Ctlg | rs12731981 |
| GMAF | 0.0225 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs12731981(A;A) |
| Alt | rs12731981(A;A) |
| Reference | Rs12731981(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia |
| Variation | info |
| Gene | MPL |
| CLNDBN | not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.43804340G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000121540.2, RCV000371334.1, RCV000467700.1, |
