rs419788
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.5 | 2.3x risk for lupus |
| (A;G) | 1.2 | 2.0x risk for lupus |
| (G;G) | 0 | average |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 31961022 |
| Gene | NELFE, SKIV2L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs419788 |
| dbSNP (classic) | rs419788 |
| ClinGen | rs419788 |
| ebi | rs419788 |
| HLI | rs419788 |
| Exac | rs419788 |
| Gnomad | rs419788 |
| Varsome | rs419788 |
| LitVar | rs419788 |
| Map | rs419788 |
| PheGenI | rs419788 |
| Biobank | rs419788 |
| 1000 genomes | rs419788 |
| hgdp | rs419788 |
| ensembl | rs419788 |
| geneview | rs419788 |
| scholar | rs419788 |
| rs419788 | |
| pharmgkb | rs419788 |
| gwascentral | rs419788 |
| openSNP | rs419788 |
| 23andMe | rs419788 |
| 23andMe all | rs419788 |
| SNPshot | rs419788 |
| SNPdbe | rs419788 |
| MSV3d | rs419788 |
| GWAS Ctlg | rs419788 |
| GMAF | 0.2199 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs419788, a SNP in an intron of the SKIV2L gene in the MHC class III region, has been associated with lupus in a large study of UK patients. In dbSNP orientation, the risk allele is rs419788(A), and the risk is dose-dependent (i.e. rs419788(A;A) individuals are at higher risk than rs419788(A;G) individuals]. The reported odds ratio is 2.0 (CI: 1.6 - 2.6, permuted p < 0.0001). [PMID 17997607
]
[PMID 19851445] High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
