rs121912472
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | JAK2-K607N variant |
| (C;G) | 2 | JAK2-K607N variant |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh37.p5 37.3/135 |
| Chromosome | 9 |
| Position | 5073742 |
| Gene | INSL6, JAK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912472 |
| dbSNP (classic) | rs121912472 |
| ClinGen | rs121912472 |
| ebi | rs121912472 |
| HLI | rs121912472 |
| Exac | rs121912472 |
| Gnomad | rs121912472 |
| Varsome | rs121912472 |
| LitVar | rs121912472 |
| Map | rs121912472 |
| PheGenI | rs121912472 |
| Biobank | rs121912472 |
| 1000 genomes | rs121912472 |
| hgdp | rs121912472 |
| ensembl | rs121912472 |
| geneview | rs121912472 |
| scholar | rs121912472 |
| rs121912472 | |
| pharmgkb | rs121912472 |
| gwascentral | rs121912472 |
| openSNP | rs121912472 |
| 23andMe | rs121912472 |
| SNPshot | rs121912472 |
| SNPdbe | rs121912472 |
| MSV3d | rs121912472 |
| GWAS Ctlg | rs121912472 |
| Max Magnitude | 2 |
rs121912472, also known as Lys607Asn, is a variant likely to be acquired (i.e. somatic) in the Janus kinase 2 JAK2 gene. The (rare) rs121912472(C) variant may be associated with certain myeloproliferative disorders.
See: OMIM 147796.0002
| ClinVar | |
|---|---|
| Risk | Rs121912472(C;C) |
| Alt | Rs121912472(C;C) |
| Reference | Rs121912472(G;G) |
| Significance | Pathogenic |
| Disease | Acute myeloid leukemia |
| Variation | info |
| Gene | JAK2 |
| CLNDBN | Acute myeloid leukemia |
| Reversed | 0 |
| HGVS | NC_000009.11:g.5073742G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015773.4, |
