rs3213119
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (G;G) | 0 | common in complete genomics |
| Make rs3213119(G;T) |
| Make rs3213119(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 159316780 |
| Gene | IL12B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3213119 |
| dbSNP (classic) | rs3213119 |
| ClinGen | rs3213119 |
| ebi | rs3213119 |
| HLI | rs3213119 |
| Exac | rs3213119 |
| Gnomad | rs3213119 |
| Varsome | rs3213119 |
| LitVar | rs3213119 |
| Map | rs3213119 |
| PheGenI | rs3213119 |
| Biobank | rs3213119 |
| 1000 genomes | rs3213119 |
| hgdp | rs3213119 |
| ensembl | rs3213119 |
| geneview | rs3213119 |
| scholar | rs3213119 |
| rs3213119 | |
| pharmgkb | rs3213119 |
| gwascentral | rs3213119 |
| openSNP | rs3213119 |
| 23andMe | rs3213119 |
| SNPshot | rs3213119 |
| SNPdbe | rs3213119 |
| MSV3d | rs3213119 |
| GWAS Ctlg | rs3213119 |
| GMAF | 0.01699 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22739501] Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes
[PMID 16600026
] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 17236132] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
[PMID 18045485] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
[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 25848976] Association of Common Genetic Polymorphisms with Melanoma Patient IL-12p40 Blood Levels, Risk and Outcomes
| ClinVar | |
|---|---|
| Risk | rs3213119(T;T) |
| Alt | rs3213119(T;T) |
| Reference | Rs3213119(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Familial Atypical Mycobacteriosis |
| Variation | info |
| Gene | IL12B |
| CLNDBN | Familial Atypical Mycobacteriosis, Autosomal Recessive |
| Reversed | 1 |
| HGVS | NC_000005.9:g.158743788C>A |
| CLNSRC | |
| CLNACC | RCV000303791.1, |
