rs2040410
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| Make rs2040410(A;A) |
| Make rs2040410(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 6 |
| Position | 32634921 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2040410 |
| dbSNP (classic) | rs2040410 |
| ClinGen | rs2040410 |
| ebi | rs2040410 |
| HLI | rs2040410 |
| Exac | rs2040410 |
| Gnomad | rs2040410 |
| Varsome | rs2040410 |
| LitVar | rs2040410 |
| Map | rs2040410 |
| PheGenI | rs2040410 |
| Biobank | rs2040410 |
| 1000 genomes | rs2040410 |
| hgdp | rs2040410 |
| ensembl | rs2040410 |
| geneview | rs2040410 |
| scholar | rs2040410 |
| rs2040410 | |
| pharmgkb | rs2040410 |
| gwascentral | rs2040410 |
| openSNP | rs2040410 |
| 23andMe | rs2040410 |
| SNPshot | rs2040410 |
| SNPdbe | rs2040410 |
| MSV3d | rs2040410 |
| GWAS Ctlg | rs2040410 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18694972
] 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
[PMID 19116921] 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] Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype.
[PMID 19143815] MHC fine mapping of human type 1 diabetes using the T1DGC data.
[PMID 19387463] Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
