rs3212723
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3212723(A;A) |
| Make rs3212723(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 17843406 |
| Gene | JAK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3212723 |
| dbSNP (classic) | rs3212723 |
| ClinGen | rs3212723 |
| ebi | rs3212723 |
| HLI | rs3212723 |
| Exac | rs3212723 |
| Gnomad | rs3212723 |
| Varsome | rs3212723 |
| LitVar | rs3212723 |
| Map | rs3212723 |
| PheGenI | rs3212723 |
| Biobank | rs3212723 |
| 1000 genomes | rs3212723 |
| hgdp | rs3212723 |
| ensembl | rs3212723 |
| geneview | rs3212723 |
| scholar | rs3212723 |
| rs3212723 | |
| pharmgkb | rs3212723 |
| gwascentral | rs3212723 |
| openSNP | rs3212723 |
| 23andMe | rs3212723 |
| SNPshot | rs3212723 |
| SNPdbe | rs3212723 |
| MSV3d | rs3212723 |
| GWAS Ctlg | rs3212723 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs3212723(A;A) |
| Alt | rs3212723(A;A) |
| Reference | Rs3212723(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Severe Combined Immune Deficiency Lymphoblastic leukemia Acute megakaryoblastic leukemia |
| Variation | info |
| Gene | JAK3 |
| CLNDBN | not specified Severe Combined Immune Deficiency Lymphoblastic leukemia, acute, with lymphomatous features Acute megakaryoblastic leukemia |
| Reversed | 1 |
| HGVS | NC_000019.9:g.17954215G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000121269.2, RCV000281289.1, RCV000433061.1, RCV000442628.1, |
