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rs419788

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position31961022
GeneNELFE, SKIV2L
is asnp
is mentioned by
dbSNPrs419788
dbSNP (classic)rs419788
ClinGenrs419788
ebirs419788
HLIrs419788
Exacrs419788
Gnomadrs419788
Varsomers419788
LitVarrs419788
Maprs419788
PheGenIrs419788
Biobankrs419788
1000 genomesrs419788
hgdprs419788
ensemblrs419788
geneviewrs419788
scholarrs419788
googlers419788
pharmgkbrs419788
gwascentralrs419788
openSNPrs419788
23andMers419788
SNPshotrs419788
SNPdbers419788
MSV3drs419788
GWAS Ctlgrs419788
GMAF0.2199
Max Magnitude1.5
? (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 17997607OA-icon.png]


[PMID 19851445OA-icon.png] High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.