rs148636776
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Possible association with thrombocythemia |
| (G;G) | 0 | common/normal |
| Make rs148636776(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 12 |
| Position | 111447491 |
| Gene | SH2B3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148636776 |
| dbSNP (classic) | rs148636776 |
| ClinGen | rs148636776 |
| ebi | rs148636776 |
| HLI | rs148636776 |
| Exac | rs148636776 |
| Gnomad | rs148636776 |
| Varsome | rs148636776 |
| LitVar | rs148636776 |
| Map | rs148636776 |
| PheGenI | rs148636776 |
| Biobank | rs148636776 |
| 1000 genomes | rs148636776 |
| hgdp | rs148636776 |
| ensembl | rs148636776 |
| geneview | rs148636776 |
| scholar | rs148636776 |
| rs148636776 | |
| pharmgkb | rs148636776 |
| gwascentral | rs148636776 |
| openSNP | rs148636776 |
| 23andMe | rs148636776 |
| SNPshot | rs148636776 |
| SNPdbe | rs148636776 |
| MSV3d | rs148636776 |
| GWAS Ctlg | rs148636776 |
| Max Magnitude | 3 |
aka E395K
Based on ACMG guidelines, originally classified as of "uncertain status" for familial erythrocytosis type 1 and essential thrombocythemia, ; in 10.1126/science.aal4043, this variant appears to have some effect (see paper for discussion) and so it is denoted as pathogenic.
