rs121434492

A SNP in the IL12RB1 gene on chromosome 19. Its most notable genotype is A;A: Immunodeficiency (reported); IL12RB1 deficiency

Gene
IL12RB1
Location
Chr 1918,083,462 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in complete genomicsTypical · 0.0
  2. A;GBadColorectal cancer risk increaseVery important · 5.0
  3. A;AMost notableBadImmunodeficiency (reported); IL12RB1 deficiencyVery important · 6.0

SNPedia records rs121434492 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other IL12RB1 SNPs

All IL12RB1 SNPs

Notes

From SNPedia

Notes

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. This variant is also reported (when inherited homozygously or as a compound heterozygote) to cause recessive IL12-Rβ1 deficiency.

A;G

see rs121434492

A;A

see rs121434492

Source and license

Adapted from rs121434492 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.