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rs509749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common; slight increase in SLE risk
(A;G) 0 common; slight increase in SLE risk
(C;T) 0
(G;G) rarer; slight decrease in SLE risk
ReferenceGRCh38 38.1/141
Chromosome1
Position160823770
GeneLY9
is asnp
is mentioned by
dbSNPrs509749
ebirs509749
HLIrs509749
Exacrs509749
Varsomers509749
Maprs509749
PheGenIrs509749
hapmaprs509749
1000 genomesrs509749
hgdprs509749
ensemblrs509749
gopubmedrs509749
geneviewrs509749
scholarrs509749
googlers509749
pharmgkbrs509749
gwascentralrs509749
openSNPrs509749
23andMers509749
23andMe allrs509749
SNP Nexus

SNPshotrs509749
SNPdbers509749
MSV3drs509749
GWAS Ctlgrs509749
GMAF0.3747
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs509749 is a SNP in exon 8 of the LY9 gene; this SNP is also known as Met602Val. The (A) allele encodes the Met; the (G) allele encodes the Val.

The rarer (G) allele is undertransmitted in a family-based association study of systemic lupus erythematosus, leading to the conclusion that the (A) allele increases risk for SLE by increasing cytokine production and thereby enhancing the immune response.[PMID 18216865]


[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors


[PMID 19442287OA-icon.png] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


GET Evidence
LY9-M602V
aa_change Met602Val
aa_change_short M602V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.534114
summary