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rs1248696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs1248696(C;T)
Make rs1248696(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position77856847
GeneDLG5
is asnp
is mentioned by
dbSNPrs1248696
ebirs1248696
HLIrs1248696
Exacrs1248696
Varsomers1248696
Maprs1248696
PheGenIrs1248696
hapmaprs1248696
1000 genomesrs1248696
hgdprs1248696
ensemblrs1248696
gopubmedrs1248696
geneviewrs1248696
scholarrs1248696
googlers1248696
pharmgkbrs1248696
gwascentralrs1248696
openSNPrs1248696
23andMers1248696
23andMe allrs1248696
SNP Nexus

SNPshotrs1248696
SNPdbers1248696
MSV3drs1248696
GWAS Ctlgrs1248696
GMAF0.04178
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM612288
DescINFLAMMATORY BOWEL DISEASE 20; IBD20
Variant
Relatedalso
[PMID 20037206OA-icon.png] Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men


[PMID 15843420OA-icon.png] DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.


[PMID 15955786OA-icon.png] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.


[PMID 16380915OA-icon.png] Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.


[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


[PMID 17455201] Association of DLG5 variants with inflammatory bowel disease in the New Zealand Caucasian population and meta-analysis of the DLG5 R30Q variant.


[PMID 17684544OA-icon.png] Systematic association mapping identifies NELL1 as a novel IBD disease gene.


[PMID 18466472OA-icon.png] Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.


[PMID 18466513OA-icon.png] Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15.


[PMID 18466554OA-icon.png] Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests.


[PMID 18715515OA-icon.png] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.


[PMID 20018049OA-icon.png] Evaluation of an optimal receiver operating characteristic procedure.


[PMID 20796250] The R30Q DLG5 variant is not associated with celiac disease or inflammatory bowel disease in the Spanish population.


[PMID 22065243] DLG5 P1371Q is associated with inflammatory bowel disease and complementary to R30Q in disease susceptibility.


GET Evidence
DLG5-Q140R
aa_change Gln140Arg
aa_change_short Q140R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.928797
summary