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rs121434492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 5 Colorectal cancer risk increase
(T;T) 6 Immunodeficiency (reported); IL12RB1 deficiency
ReferenceGRCh38 38.1/141
Chromosome19
Position18083462
GeneIL12RB1
is asnp
is mentioned by
dbSNPrs121434492
ebirs121434492
HLIrs121434492
Exacrs121434492
Varsomers121434492
Maprs121434492
PheGenIrs121434492
hapmaprs121434492
1000 genomesrs121434492
hgdprs121434492
ensemblrs121434492
gopubmedrs121434492
geneviewrs121434492
scholarrs121434492
googlers121434492
pharmgkbrs121434492
gwascentralrs121434492
openSNPrs121434492
23andMers121434492
23andMe allrs121434492
SNP Nexus

SNPshotrs121434492
SNPdbers121434492
MSV3drs121434492
GWAS Ctlgrs121434492
Max Magnitude6

rs121434492, also known as c.94C>T and p.Gln32Ter, 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]

OMIM601604
Desc
Variant0001
Relatedalso
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 RCV000008497.3,