rs1990760

A SNP in the IFIH1 gene on chromosome 2. Its most notable genotype is C;C: common in clinvar

Gene
IFIH1
Location
Chr 2162,267,541 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
37%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in clinvarTypical · 0.049% of people

On SNPedia: (C;C). 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.

  • AverageC;C 49%
  • European ancestry (Utah)C;C 12%
  • Han Chinese (Beijing)C;C 69%
  • Japanese (Tokyo)C;C 54%
  • Yoruba (Nigeria)C;C 87%
  • African ancestry (Southwest US)C;C 65%
  • Chinese (Denver)C;C 63%
  • Gujarati IndianC;C 13%
  • Luhya (Kenya)C;C 80%
  • Mexican ancestry (Los Angeles)C;C 24%
  • Maasai (Kenya)C;C 55%
  • TuscanC;C 14%

Notes

From SNPedia

Show notes, about 610 words

This SNP is unclear. According to GWAS one study says risk allele is A, another study says risk allele is C. Ambiguous flip ? Abstract associated with type-1 diabetes, organ-specific autoimmune diseases, including Graves' disease. (odds ratio 1.47 (CI: 1.23–1.76, p = 1.9 x 10 –5 ) This polymorphism may also contribute to several other autoimmune disorders. A study of 261 Chinese patients with Graves' disease failed to find any association with rs1990760. A study of 591 French Caucasian multiple sclerosis trio families found no association between rs1990760 or rs2068330 and the disease, which did not confirm one previously reported study. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. The interferon induced with helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. Assembly of inflammation-related genes for pathway-focused genetic analysis. The association between the IFIH1 locus and type 1 diabetes. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3. Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells. The expanding genetic overlap between multiple sclerosis and type I diabetes. Shared and distinct genetic variants in type 1 diabetes and celiac disease. Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population. A generalized family-based association test for dichotomous traits. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Overview of the Rapid Response data. The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome. The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data. Study of transcriptional effects in Cis at the IFIH1 locus. Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-alpha and serologic autoimmunity in lupus patients. IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population. Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis.

Source and license

Adapted from rs1990760 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.