rs4252041
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4252041(C;T) |
| Make rs4252041(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 113133033 |
| Gene | IL1RN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4252041 |
| dbSNP (classic) | rs4252041 |
| ClinGen | rs4252041 |
| ebi | rs4252041 |
| HLI | rs4252041 |
| Exac | rs4252041 |
| Gnomad | rs4252041 |
| Varsome | rs4252041 |
| LitVar | rs4252041 |
| Map | rs4252041 |
| PheGenI | rs4252041 |
| Biobank | rs4252041 |
| 1000 genomes | rs4252041 |
| hgdp | rs4252041 |
| ensembl | rs4252041 |
| geneview | rs4252041 |
| scholar | rs4252041 |
| rs4252041 | |
| pharmgkb | rs4252041 |
| gwascentral | rs4252041 |
| openSNP | rs4252041 |
| 23andMe | rs4252041 |
| SNPshot | rs4252041 |
| SNPdbe | rs4252041 |
| MSV3d | rs4252041 |
| GWAS Ctlg | rs4252041 |
| GMAF | 0.01653 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19290009] Variants of the interleukin-1 receptor antagonist gene are associated with fat mass in men
[PMID 19729864
] Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study.
| ClinVar | |
|---|---|
| Risk | rs4252041(T;T) |
| Alt | rs4252041(T;T) |
| Reference | Rs4252041(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Interleukin 1 receptor antagonist deficiency |
| Variation | info |
| Gene | IL1RN |
| CLNDBN | Interleukin 1 receptor antagonist deficiency |
| Reversed | 0 |
| HGVS | NC_000002.11:g.113890610C>T |
| CLNSRC | |
| CLNACC | RCV000343482.1, |
