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rs372833507

From SNPedia

Orientationplus
Stabilizedplus
Make rs372833507(A;A)
Make rs372833507(A;G)
Make rs372833507(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position18062272
GeneIL12RB1
is asnp
is mentioned by
dbSNPrs372833507
dbSNP (old)rs372833507
ClinGenrs372833507
ebirs372833507
HLIrs372833507
Exacrs372833507
Gnomadrs372833507
Varsomers372833507
Maprs372833507
PheGenIrs372833507
Biobankrs372833507
1000 genomesrs372833507
hgdprs372833507
ensemblrs372833507
gopubmedrs372833507
geneviewrs372833507
scholarrs372833507
googlers372833507
pharmgkbrs372833507
gwascentralrs372833507
openSNPrs372833507
23andMers372833507
23andMe allrs372833507
SNP Nexus

SNPshotrs372833507
SNPdbers372833507
MSV3drs372833507
GWAS Ctlgrs372833507
Max Magnitude
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 23864330OA-icon.png]