rs7454108
rs7454108 is a non-coding tag SNP on chromosome 6p21 within the HLA region (near HLA-DQ) that marks the HLA-DQ8 haplotype, one of the two major HLA risk haplotypes for celiac disease; it is typically used alongside rs2187668, which tags HLA-DQ2. Because nearly all people with celiac disease carry DQ2 and/or DQ8, this SNP pair is used to flag genetic susceptibility, with the C allele of rs7454108 indicating a DQ8-related risk genotype. Absence of both risk tags makes celiac disease very unlikely, while their presence is common in the population and only a susceptibility marker, not a diagnosis.
Traits rs7454108 reads
Reference databases
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