Rs2187668
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2187668 |
| hapmap | rs2187668 |
| hgdp | rs2187668 |
| ensembl | rs2187668 |
| gopubmed | rs2187668 |
| scholar | rs2187668 |
| rs2187668 | |
| pharmgkb | rs2187668 |
| hgvbaseg2p | rs2187668 |
| medrefsnp | rs2187668 |
| 23andMe | rs2187668 |
| SNP Nexus |
| Chromosome | 6 |
| Orientation | minus |
| Position | 32713861 |
| Genotype | Effect |
|---|---|
| rs2187668(A;A) | 2 HLA-DRB1*0301 alleles |
| rs2187668(A;G) | 1 HLA-DRB1*0301 allele |
| rs2187668(G;G) | average |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2187668(A;A) | 2 HLA-DRB1*0301 alleles | |
| Rs2187668(A;G) | 1 HLA-DRB1*0301 allele | |
| Rs2187668(C;C) | 00 | |
| Rs2187668(G;G) | 00 | average |
In at least UK populations, and perhaps others, SNP rs2187668 is a tag SNP for the HLA-DRB1*0301 allele.
The HLA-DRB1*0301 allele is the allele presenting the highest risk for developing lupus, and it appears to act in a dominant manner (i.e. inheriting 2 copies is no worse than inheriting 1 copy). In dbSNP orientation, the risk allele is rs2187668(A), with an odds ratio of 2.3x (CI: 1.7 - 3.2, permuted p < 0.0001). [PMID 17997607]
From individuals with the most common [[rs2187668](G;G) genotype, risk is reduced for celiac disease, with an odds ratio of 0.30x according to a study of ~800 patients.[PMID 17558408]
| ? | (A;G) (G;G) |
|---|---|
|
| |
| GWAS snp | |
|---|---|
| PMID | [PMID 18204098] |
| Trait | Systemic lupus erythematosus |
| Title | Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX |
| Risk Allele | A |
| P-val | 2.9999999999999999E-21 |
| Odds Ratio | NR NR |
