rs2187668
rs2187668 is a single-nucleotide variant in intron 1 of HLA-DQA1 that serves as a highly accurate proxy ("tag SNP") for the HLA-DQ2.5 haplotype (DQA1*05:01-DQB1*02:01) rather than itself being a coding change. The A allele tags DQ2.5cis with about 97% linkage, and DQ2.5 (together with DQ8) is carried by the large majority of people with celiac disease because it lets the DQ2.5 molecule present deamidated gliadin peptides to T cells and trigger the autoimmune response. It is used as the primary genetic susceptibility marker for celiac disease risk.
Traits rs2187668 reads
Reference databases
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