rs12044852
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | common | |
| (A;C) | 1.24x risk | |
| (C;C) | >1.24x risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 116545157 |
| Gene | CD58, LOC105378925 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12044852 |
| dbSNP (classic) | rs12044852 |
| ClinGen | rs12044852 |
| ebi | rs12044852 |
| HLI | rs12044852 |
| Exac | rs12044852 |
| Gnomad | rs12044852 |
| Varsome | rs12044852 |
| LitVar | rs12044852 |
| Map | rs12044852 |
| PheGenI | rs12044852 |
| Biobank | rs12044852 |
| 1000 genomes | rs12044852 |
| hgdp | rs12044852 |
| ensembl | rs12044852 |
| geneview | rs12044852 |
| scholar | rs12044852 |
| rs12044852 | |
| pharmgkb | rs12044852 |
| gwascentral | rs12044852 |
| openSNP | rs12044852 |
| 23andMe | rs12044852 |
| SNPshot | rs12044852 |
| SNPdbe | rs12044852 |
| MSV3d | rs12044852 |
| GWAS Ctlg | rs12044852 |
| GMAF | 0.2383 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs12044852 has been reported in a large study to be associated with multiple sclerosis.
The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with this allele is 1.24 (CI 1.12-1.37). [PMID 17660530]
[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
[PMID 21362770
] Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts
[PMID 19237575] The role of the CD58 locus in multiple sclerosis.
[PMID 20007504] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
[PMID 20368992] Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
[PMID 22411505] Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
[PMID 24655566] CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
[PMID 25685741] Association of CD58 Polymorphism with Multiple Sclerosis and Response to Interferon ß Therapy in A Subset of Iranian Population
[PMID 31505972] Association of CD58 Polymorphisms and its Protein Expression with the Development and Prognosis of Autoimmune Thyroid Diseases.
