rs3212752
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs3212752(A;G) |
| Make rs3212752(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 17837923 |
| Gene | JAK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3212752 |
| dbSNP (classic) | rs3212752 |
| ClinGen | rs3212752 |
| ebi | rs3212752 |
| HLI | rs3212752 |
| Exac | rs3212752 |
| Gnomad | rs3212752 |
| Varsome | rs3212752 |
| LitVar | rs3212752 |
| Map | rs3212752 |
| PheGenI | rs3212752 |
| Biobank | rs3212752 |
| 1000 genomes | rs3212752 |
| hgdp | rs3212752 |
| ensembl | rs3212752 |
| geneview | rs3212752 |
| scholar | rs3212752 |
| rs3212752 | |
| pharmgkb | rs3212752 |
| gwascentral | rs3212752 |
| openSNP | rs3212752 |
| 23andMe | rs3212752 |
| SNPshot | rs3212752 |
| SNPdbe | rs3212752 |
| MSV3d | rs3212752 |
| GWAS Ctlg | rs3212752 |
| GMAF | 0.1065 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19282076
] Association of Single-Nucleotide Polymorphisms in JAK3, STAT4, and STAT6 With New Cardiovascular Events in Incident Dialysis Patients
| ClinVar | |
|---|---|
| Risk | rs3212752(G;G) |
| Alt | rs3212752(G;G) |
| Reference | Rs3212752(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Severe Combined Immune Deficiency |
| Variation | info |
| Gene | JAK3 |
| CLNDBN | not specified Severe Combined Immune Deficiency |
| Reversed | 1 |
| HGVS | NC_000019.9:g.17948732T>C |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000125433.1, RCV000306012.1, |
