Rs6498169
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6498169 |
| PheGenI | rs6498169 |
| nextbio | rs6498169 |
| hapmap | rs6498169 |
| 1000 genomes | rs6498169 |
| hgdp | rs6498169 |
| ensembl | rs6498169 |
| gopubmed | rs6498169 |
| geneview | rs6498169 |
| scholar | rs6498169 |
| rs6498169 | |
| pharmgkb | rs6498169 |
| gwascentral | rs6498169 |
| openSNP | rs6498169 |
| 23andMe | rs6498169 |
| 23andMe all | rs6498169 |
| SNP Nexus | |
| SNPshot | rs6498169 |
| SNPdbe | rs6498169 |
| MSV3d | rs6498169 |
| Gene | CLEC16A |
| Chromosome | 16 |
| Orientation | plus |
| GMAF | 0.397 |
| Position | 11249329 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | >1.14x risk |
| (A;G) | 1.14x risk | |
| (G;G) | common |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with this allele is 1.14 (CI 1.08-1.21). [PMID 17660530]
| GWAS | |
|---|---|
| SNP | rs6498169 |
| PubMedID | [PMID 17660530] |
| Condition | Multiple sclerosis |
| Gene | KIAA0350 |
| Risk Allele | G |
| pValue | 4.00E-006 |
| OR | 1.14 |
| 95% CI | 1.08-1.21 |
[PMID 19317741] Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility
[PMID 19734133] A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis
[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
[PMID 18987646] The expanding genetic overlap between multiple sclerosis and type I diabetes.
[PMID 19221398] Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.
[PMID 19337309] Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients.
[PMID 20007504] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
[PMID 20211854] CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.
[PMID 20220768] A candidate gene study of CLEC16A does not provide evidence of association with risk for anti-CCP-positive rheumatoid arthritis.
[PMID 20368992] Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
[PMID 21179112] Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus.
| GET Evidence | |
|---|---|
| rs6498169 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.679688 |
| summary | |
