rs2230724
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2230724(A;A) |
| Make rs2230724(A;G) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 9 |
| Position | 5081780 |
| Gene | INSL6, JAK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230724 |
| dbSNP (classic) | rs2230724 |
| ClinGen | rs2230724 |
| ebi | rs2230724 |
| HLI | rs2230724 |
| Exac | rs2230724 |
| Gnomad | rs2230724 |
| Varsome | rs2230724 |
| LitVar | rs2230724 |
| Map | rs2230724 |
| PheGenI | rs2230724 |
| Biobank | rs2230724 |
| 1000 genomes | rs2230724 |
| hgdp | rs2230724 |
| ensembl | rs2230724 |
| geneview | rs2230724 |
| scholar | rs2230724 |
| rs2230724 | |
| pharmgkb | rs2230724 |
| gwascentral | rs2230724 |
| openSNP | rs2230724 |
| 23andMe | rs2230724 |
| SNPshot | rs2230724 |
| SNPdbe | rs2230724 |
| MSV3d | rs2230724 |
| GWAS Ctlg | rs2230724 |
| GMAF | 0.4105 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22168550] Association of Janus kinase 2 (JAK2) polymorphisms with acute leukemia susceptibility
[PMID 23717640
] Janus Kinase 2 Polymorphisms Are Associated with Risk in Patients with Gastric Cancer in a Chinese Population
[PMID 23193966] Contribution of JAK2 and STAT3 variants to the genetic susceptibility of recurrent spontaneous miscarriage in a Tunisian population.
[PMID 23670291] Search for mutations in signaling pathways in head and neck squamous cell carcinoma.
[PMID 25127987] Polymorphisms in immune mediators associate with risk of cervical cancer
| ClinVar | |
|---|---|
| Risk | rs2230724(A;A) |
| Alt | rs2230724(A;A) |
| Reference | Rs2230724(G;G) |
| Significance | Non-pathogenic |
| Disease | Budd-Chiari syndrome not specified |
| Variation | info |
| Gene | JAK2 |
| CLNDBN | Budd-Chiari syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.5081780G>A |
| CLNSRC | |
| CLNACC | RCV000349925.1, RCV000454918.1, |
