rs393548
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs393548(A;A) |
| Make rs393548(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 18086934 |
| Gene | IL12RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs393548 |
| dbSNP (classic) | rs393548 |
| ClinGen | rs393548 |
| ebi | rs393548 |
| HLI | rs393548 |
| Exac | rs393548 |
| Gnomad | rs393548 |
| Varsome | rs393548 |
| LitVar | rs393548 |
| Map | rs393548 |
| PheGenI | rs393548 |
| Biobank | rs393548 |
| 1000 genomes | rs393548 |
| hgdp | rs393548 |
| ensembl | rs393548 |
| geneview | rs393548 |
| scholar | rs393548 |
| rs393548 | |
| pharmgkb | rs393548 |
| gwascentral | rs393548 |
| openSNP | rs393548 |
| 23andMe | rs393548 |
| SNPshot | rs393548 |
| SNPdbe | rs393548 |
| MSV3d | rs393548 |
| GWAS Ctlg | rs393548 |
| GMAF | 0.191 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17236132
] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
[PMID 20350312] Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya.
[PMID 20525402] Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study.
| ClinVar | |
|---|---|
| Risk | rs393548(A;A) |
| Alt | rs393548(A;A) |
| Reference | Rs393548(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | IL12RB1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000019.9:g.18197744T>A |
| CLNSRC | |
| CLNACC | RCV000455337.1, |
