Rs12708716
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12708716 |
| PheGenI | rs12708716 |
| nextbio | rs12708716 |
| hapmap | rs12708716 |
| 1000 genomes | rs12708716 |
| hgdp | rs12708716 |
| ensembl | rs12708716 |
| gopubmed | rs12708716 |
| geneview | rs12708716 |
| scholar | rs12708716 |
| rs12708716 | |
| pharmgkb | rs12708716 |
| gwascentral | rs12708716 |
| openSNP | rs12708716 |
| 23andMe | rs12708716 |
| 23andMe all | rs12708716 |
| SNP Nexus | |
| SNPshot | rs12708716 |
| SNPdbe | rs12708716 |
| MSV3d | rs12708716 |
| Gene | CLEC16A |
| Chromosome | 16 |
| Orientation | plus |
| GMAF | 0.3283 |
| Position | 11179873 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.6x risk | |
| (A;G) | 1.2x risk | |
| (G;G) | 0 | normal |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.19 (CI 0.97-1.45), and for homozygotes, 1.55 (CI 1.27-1.89). [PMID 17554300]
In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 0.81 (CI 0.77-0.86). [PMID 17554260]
[PMID 18987646] Tested in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10 296 unrelated controls, SNP rs12708716 was associated with disease risk (p = 1.6 x 10e-16)
| GWAS | |
|---|---|
| SNP | rs12708716 |
| PubMedID | [PMID 17554260] |
| Condition | Type 1 diabetes |
| Gene | KIAA0350 |
| Risk Allele | A |
| pValue | 3.00E-018 |
| OR | 1.23 |
| 95% CI | 1.16-1.30 |
| GWAS snp | |
|---|---|
| PMID | [PMID 18978792] |
| Trait | Type 1 diabetes |
| Title | Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci |
| Risk Allele | G |
| P-val | 7E-13 |
| Odds Ratio | NR NR |
| GWAS snp | |
|---|---|
| PMID | [PMID 19430480] |
| Trait | Type 1 diabetes |
| Title | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes |
| Risk Allele | |
| P-val | 2E-16 |
| Odds Ratio | NR NR |
[PMID 19734133] A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
| GWAS snp | |
|---|---|
| PMID | [PMID 21829393] |
| Trait | |
| Title | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. |
| Risk Allele | G |
| P-val | 5E-14 |
| Odds Ratio | 1.2000 [NR] |
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18252225] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19140132] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
[PMID 19359276] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
[PMID 19639606] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 20182566] The genetic aspects of multiple sclerosis.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 20405052] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
[PMID 21179112] Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus.
| GET Evidence | |
|---|---|
| rs12708716 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.359375 |
| summary | |
