rs4958847
A SNP in the IRGM gene on chromosome 5. Its most notable genotype is A;A: 2.6x increased risk for Crohn's disease
- Gene
- IRGM
- Location
- Chr 5150,860,025 (GRCh38)
- Highest magnitude
- 2.6Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 35%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBad2.6x increased risk for Crohn's disease
- A;GBad1.3x increased risk for Crohn's disease
- G;GGoodnormal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 19% A;G 41% G;G 40%
- European ancestry (Utah)A;A 3% A;G 18% G;G 80%
- Han Chinese (Beijing)A;A 41% A;G 44% G;G 15%
- Japanese (Tokyo)A;A 27% A;G 58% G;G 16%
- Yoruba (Nigeria)A;A 26% A;G 52% G;G 22%
- African ancestry (Southwest US)A;A 25% A;G 44% G;G 32%
- Chinese (Denver)A;A 45% A;G 44% G;G 11%
- Gujarati IndianA;A 3% A;G 34% G;G 63%
- Luhya (Kenya)A;A 21% A;G 42% G;G 37%
- Mexican ancestry (Los Angeles)A;A 5% A;G 33% G;G 62%
- Maasai (Kenya)A;A 14% A;G 47% G;G 40%
- TuscanA;A 1% A;G 32% G;G 67%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 290 words
rs4958847 is a SNP in the IRGM gene. A study of 507 CD patients, 475 UC patients and 576 controls from New Zealand Caucasians found that rs4958847, a SNP in the IRGM gene, was associated specifically with ileal Crohn's disease but not with other forms of inflammatory bowel disease. The reported odds ratio was 1.767, CI: 1.224-2.558, p=0.0022. Another study, including 557 Crohn's disease (CD) patients, 425 ulcerative colitis (UC) patients, and 672 ethnically matched Spanish controls as well as a meta-analysis concluded that rs4958847(A) was associated with CD (p=2.78 x 10(-17), pooled odds ratio 1.31) and UC (p=0.014, pooled odds ratio 1.13). Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn's disease. Unbiased estimation of odds ratios: combining genomewide association scans with replication studies. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas? The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier as one mechanism of action. Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population.
Source and license
Adapted from rs4958847 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.