rs1248696
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| Make rs1248696(C;T) |
| Make rs1248696(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 77856847 |
| Gene | DLG5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1248696 |
| dbSNP (classic) | rs1248696 |
| ClinGen | rs1248696 |
| ebi | rs1248696 |
| HLI | rs1248696 |
| Exac | rs1248696 |
| Gnomad | rs1248696 |
| Varsome | rs1248696 |
| LitVar | rs1248696 |
| Map | rs1248696 |
| PheGenI | rs1248696 |
| Biobank | rs1248696 |
| 1000 genomes | rs1248696 |
| hgdp | rs1248696 |
| ensembl | rs1248696 |
| geneview | rs1248696 |
| scholar | rs1248696 |
| rs1248696 | |
| pharmgkb | rs1248696 |
| gwascentral | rs1248696 |
| openSNP | rs1248696 |
| 23andMe | rs1248696 |
| SNPshot | rs1248696 |
| SNPdbe | rs1248696 |
| MSV3d | rs1248696 |
| GWAS Ctlg | rs1248696 |
| GMAF | 0.04178 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20037206
] Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men
[PMID 15843420] DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.
[PMID 15955786] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
[PMID 16380915] 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 16385451] 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 17684544] Systematic association mapping identifies NELL1 as a novel IBD disease gene.
[PMID 18466472] Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.
[PMID 18466513] Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15.
[PMID 18466554] Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests.
[PMID 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[PMID 20018049] 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.
