rs3194051

A SNP in the IL7R gene on chromosome 5. Its most notable genotype is A;A: >1.1x risk of type-1 diabetes

Gene
IL7R
Location
Chr 535,876,172 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
23%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBad>1.1x risk of type-1 diabetesMinor · 1.065% of people
  2. A;GBad1.12x risk of type-1 diabetesMinor · 1.030% of people
  3. G;GGoodnormalTypical · 0.06% of people

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 65% A;G 30% G;G 6%
  • European ancestry (Utah)A;A 47% A;G 43% G;G 11%
  • Han Chinese (Beijing)A;A 90% A;G 10% G;G 0%
  • Japanese (Tokyo)A;A 90% A;G 9% G;G <1%
  • Yoruba (Nigeria)A;A 36% A;G 48% G;G 16%
  • African ancestry (Southwest US)A;A 53% A;G 40% G;G 7%
  • Chinese (Denver)A;A 91% A;G 9% G;G 0%
  • Gujarati IndianA;A 65% A;G 30% G;G 5%
  • Luhya (Kenya)A;A 55% A;G 38% G;G 7%
  • Mexican ancestry (Los Angeles)A;A 67% A;G 33% G;G 0%
  • Maasai (Kenya)A;A 66% A;G 31% G;G 3%
  • TuscanA;A 51% A;G 38% G;G 11%

Conditions, medicines and genes

Other IL7R SNPs

All IL7R SNPs

Notes

From SNPedia

Show notes, about 140 words

rs3194051, one of several SNPs in the IL7R gene, has been reported in a large study to be associated with type-1 diabetes. In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.12 (CI 1.05&#226;&#8364;&#8220;1.19). Study of the association between the CAPSL-IL7R locus and type 1 diabetes. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

Source and license

Adapted from rs3194051 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.