Rs2040410

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Orientationplus
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Make rs2040410(A;G)
Make rs2040410(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position32634921
is asnp
is mentioned by
dbSNPrs2040410
Exacrs2040410
PheGenIrs2040410
nextbiors2040410
hapmaprs2040410
1000 genomesrs2040410
hgdprs2040410
ensemblrs2040410
gopubmedrs2040410
geneviewrs2040410
scholarrs2040410
googlers2040410
pharmgkbrs2040410
gwascentralrs2040410
openSNPrs2040410
23andMers2040410
23andMe allrs2040410
SNP Nexus

SNPshotrs2040410
SNPdbers2040410
MSV3drs2040410
? (A;A) (A;G) (G;G) 28
[PMID 18694972OA-icon.png] 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 19116921OA-icon.png] 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 19143810OA-icon.png] Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype.

[PMID 19143815OA-icon.png] MHC fine mapping of human type 1 diabetes using the T1DGC data.

[PMID 19387463OA-icon.png] Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.