{{Rsnum
|rsid=2040410
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|position=32634921
|Chromosome=6
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 18.5 | 81.5
| HCB | 0.0 | 13.3 | 86.7
| JPT | 0.0 | 4.5 | 95.5
| YRI | 0.0 | 13.8 | 86.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 13.3 | 86.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{PMID|18694972|OA=1
}} 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]]). [http://www.nature.com/ng/journal/v38/n10/fig_tab/ng1885_T1.html Nature]

{{PMID|19116921|OA=1
}} 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.

{{PMID|19143810|OA=1
}} Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype.

{{PMID|19143815|OA=1
}} MHC fine mapping of human type 1 diabetes using the T1DGC data.

{{PMID|19387463|OA=1
}} Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}