rs2040410

A SNP on chromosome 6. Its most notable genotype is C;C: common/normal

Gene
None listed
Location
Chr 632,634,921 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon/normalTypical · 0.087% of people

SNPedia records rs2040410 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageC;C 87%
  • European ancestry (Utah)C;C 82%
  • Han Chinese (Beijing)C;C 87%
  • Japanese (Tokyo)C;C 96%
  • Yoruba (Nigeria)C;C 86%

Conditions, medicines and genes

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 210 words

People with the human leukocyte antigen (HLA) genotype DRB1*0301-DQA1*0501-DQB1*0201/DRB1*04-DQA1*0301-DQB1*0302 (more simply known as "DR3/4-DQ8") are at the highest risk of developing type-1 diabetes. The rs2040410(A) allele is associated with DRB1*0301, and the rs7454108(C) allele is associated with DQB1*0302. Instead of more traditional antibody-based tests, two SNPs (rs2040410 and rs7454108) can be used to identify the presence or absence of the DR3/4-DQ8 genotype and thus the highest-risk heterozygous genotype associated with type-1 diabetes. For users of Promethease, this is determined via Gs121. Separately, rs2040410 is associated with type-1 diabetes and systemic lupus erythematosus (SLE). Nature Different patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex region. Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype. MHC fine mapping of human type 1 diabetes using the T1DGC data. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.

Source and license

Adapted from rs2040410 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.