rs7454108
| Higher risk of type-1 diabetes |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1.5 | Homozygous for HLA-DQ8 haplotype |
| (C;T) | 1.5 | Single HLA-DQ8 haplotype |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32713706 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7454108 |
| dbSNP (classic) | rs7454108 |
| ClinGen | rs7454108 |
| ebi | rs7454108 |
| HLI | rs7454108 |
| Exac | rs7454108 |
| Gnomad | rs7454108 |
| Varsome | rs7454108 |
| LitVar | rs7454108 |
| Map | rs7454108 |
| PheGenI | rs7454108 |
| Biobank | rs7454108 |
| 1000 genomes | rs7454108 |
| hgdp | rs7454108 |
| ensembl | rs7454108 |
| geneview | rs7454108 |
| scholar | rs7454108 |
| rs7454108 | |
| pharmgkb | rs7454108 |
| gwascentral | rs7454108 |
| openSNP | rs7454108 |
| 23andMe | rs7454108 |
| SNPshot | rs7454108 |
| SNPdbe | rs7454108 |
| MSV3d | rs7454108 |
| GWAS Ctlg | rs7454108 |
| GMAF | 0.09826 |
| Max Magnitude | 1.5 |
| ? | (C;C) (C;T) (T;T) | 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 (and thus DQ8).
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.
[PMID 15747258] A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms.
[PMID 18509540] Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms.
[PMID 19143815] MHC fine mapping of human type 1 diabetes using the T1DGC data.
[PMID 19143817] Effect of linkage status of affected sib-pairs on the search for novel type 1 diabetes susceptibility genes in the HLA complex.
[PMID 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.
[PMID 22511809] Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study.
