rs146249964
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a congenital amegakaryocytic thrombocytopenia mutation |
| (T;T) | 0 | common in clinvar |
| Make rs146249964(A;A) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 43337929 |
| Gene | MPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146249964 |
| dbSNP (classic) | rs146249964 |
| ClinGen | rs146249964 |
| ebi | rs146249964 |
| HLI | rs146249964 |
| Exac | rs146249964 |
| Gnomad | rs146249964 |
| Varsome | rs146249964 |
| LitVar | rs146249964 |
| Map | rs146249964 |
| PheGenI | rs146249964 |
| Biobank | rs146249964 |
| 1000 genomes | rs146249964 |
| hgdp | rs146249964 |
| ensembl | rs146249964 |
| geneview | rs146249964 |
| scholar | rs146249964 |
| rs146249964 | |
| pharmgkb | rs146249964 |
| gwascentral | rs146249964 |
| openSNP | rs146249964 |
| 23andMe | rs146249964 |
| SNPshot | rs146249964 |
| SNPdbe | rs146249964 |
| MSV3d | rs146249964 |
| GWAS Ctlg | rs146249964 |
| Max Magnitude | 3 |
aka c.79+2T>A
This variant in the thrombopoietin receptor-encoding gene, MPL, was reported in 2011 to be a founder mutation the Ashkenazi Jewish (AJ) population for CAMT (congenital amegakaryocytic thrombocytopenia), and the carrier frequency was estimated to be 1 in 75.[PMID 21489838]
| ClinVar | |
|---|---|
| Risk | rs146249964(A;A) |
| Alt | rs146249964(A;A) |
| Reference | Rs146249964(T;T) |
| Significance | Pathogenic |
| Disease | not specified not provided |
| Variation | info |
| Gene | MPL |
| CLNDBN | not specified not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.43803600T>A |
| CLNSRC | |
| CLNACC | RCV000122423.1, RCV000254762.1, |
