rs12708716
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 1.6x risk of type-1 diabetes | |
(A;G) | 1.2x risk of type-1 diabetes | |
(G;G) | 0 | normal |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 11086016 |
Gene | CLEC16A |
is a | snp |
is | mentioned by |
dbSNP | rs12708716 |
dbSNP (classic) | rs12708716 |
ClinGen | rs12708716 |
ebi | rs12708716 |
HLI | rs12708716 |
Exac | rs12708716 |
Gnomad | rs12708716 |
Varsome | rs12708716 |
LitVar | rs12708716 |
Map | rs12708716 |
PheGenI | rs12708716 |
Biobank | rs12708716 |
1000 genomes | rs12708716 |
hgdp | rs12708716 |
ensembl | rs12708716 |
geneview | rs12708716 |
scholar | rs12708716 |
rs12708716 | |
pharmgkb | rs12708716 |
gwascentral | rs12708716 |
openSNP | rs12708716 |
23andMe | rs12708716 |
SNPshot | rs12708716 |
SNPdbe | rs12708716 |
MSV3d | rs12708716 |
GWAS Ctlg | rs12708716 |
GMAF | 0.3283 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
rs12708716 has been reported in a large study to be associated with type-1 diabetes.
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.
[PMID 23151489] Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus