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.