rs121434492
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 5 | Colorectal cancer risk increase |
| (T;T) | 6 | Immunodeficiency (reported); IL12RB1 deficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 18083462 |
| Gene | IL12RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434492 |
| dbSNP (classic) | rs121434492 |
| ClinGen | rs121434492 |
| ebi | rs121434492 |
| HLI | rs121434492 |
| Exac | rs121434492 |
| Gnomad | rs121434492 |
| Varsome | rs121434492 |
| LitVar | rs121434492 |
| Map | rs121434492 |
| PheGenI | rs121434492 |
| Biobank | rs121434492 |
| 1000 genomes | rs121434492 |
| hgdp | rs121434492 |
| ensembl | rs121434492 |
| geneview | rs121434492 |
| scholar | rs121434492 |
| rs121434492 | |
| pharmgkb | rs121434492 |
| gwascentral | rs121434492 |
| openSNP | rs121434492 |
| 23andMe | rs121434492 |
| SNPshot | rs121434492 |
| SNPdbe | rs121434492 |
| MSV3d | rs121434492 |
| GWAS Ctlg | rs121434492 |
| Max Magnitude | 6 |
rs121434492, also known as c.94C>T, p.Gln32Ter and Q32X, represents a rare mutation in the IL12RB1 gene on chromosome 19.
Inherited dominantly, the minor allele is reported to increase risk for colorectal cancer. 10.1038/ncomms11883
This variant is also reported (when inherited homozygously or as a compound heterozygote) to cause recessive IL12-Rβ1 deficiency.[PMID 23864330
]
| ClinVar | |
|---|---|
| Risk | Rs121434492(T;T) |
| Alt | Rs121434492(T;T) |
| Reference | Rs121434492(C;C) |
| Significance | Pathogenic |
| Disease | Immunodeficiency 30 |
| Variation | info |
| Gene | IL12RB1 |
| CLNDBN | Immunodeficiency 30 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.18194272G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008497.4, |
