rs372833507
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs372833507(A;A) |
| Make rs372833507(A;G) |
| Make rs372833507(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 18062272 |
| Gene | IL12RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372833507 |
| dbSNP (classic) | rs372833507 |
| ClinGen | rs372833507 |
| ebi | rs372833507 |
| HLI | rs372833507 |
| Exac | rs372833507 |
| Gnomad | rs372833507 |
| Varsome | rs372833507 |
| LitVar | rs372833507 |
| Map | rs372833507 |
| PheGenI | rs372833507 |
| Biobank | rs372833507 |
| 1000 genomes | rs372833507 |
| hgdp | rs372833507 |
| ensembl | rs372833507 |
| geneview | rs372833507 |
| scholar | rs372833507 |
| rs372833507 | |
| pharmgkb | rs372833507 |
| gwascentral | rs372833507 |
| openSNP | rs372833507 |
| 23andMe | rs372833507 |
| SNPshot | rs372833507 |
| SNPdbe | rs372833507 |
| MSV3d | rs372833507 |
| GWAS Ctlg | rs372833507 |
| Max Magnitude | 0 |
rs372833507, also known as c.1624C>T and p.Gln542Ter, 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
]
