{{Rsnum
|rsid=12708716
|Gene=CLEC16A
|Chromosome=16
|position=11086016
|Orientation=plus
|GMAF=0.3283
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CLEC16A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 46.9 | 42.5 | 10.6
| HCB | 50.4 | 47.4 | 2.2
| JPT | 70.8 | 26.5 | 2.7
| YRI | 30.6 | 48.3 | 21.1
| ASW | 31.6 | 45.6 | 22.8
| CHB | 50.4 | 47.4 | 2.2
| CHD | 50.5 | 42.2 | 7.3
| GIH | 30.7 | 45.5 | 23.8
| LWK | 30.9 | 43.6 | 25.5
| MEX | 53.4 | 43.1 | 3.4
| MKK | 28.2 | 48.7 | 23.1
| TSI | 32.4 | 46.1 | 21.6
| HapMapRevision=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|OA=1
}}

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|OA=1
}}

{{PMID|18987646|OA=1
}} 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 Summary
|SNP=rs12708716
|PubMedID=17554260
|Condition=Type 1 diabetes
|Gene=KIAA0350
|Risk Allele=A
|pValue=3.00E-018
|OR=1.23
|95CI=1.16-1.30
|OA=1
}}

{{PMID Auto GWAS
|PMID=18978792
|Trait=Type 1 diabetes
|Title=Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
|RiskAllele=G
|Pval=7E-13
|OR=NR
|ORtxt=NR
|OA=1
}}
{{PMID Auto GWAS
|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
|RiskAllele=
|Pval=2E-16
|OR=NR
|ORtxt=NR
|OA=1
}}

{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
|id=222100
|rsnum=12708716
}}

{{omim
|desc=C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
|id=611303
|rsnum=12708716
}}
{{PMID Auto
|PMID=19734133
|Title=A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis
|OA=1
}}

{{PharmGKB
|RSID=rs12708716
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18978792; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 16p13.13; Reported Gene(s): CLEC16A; Risk Allele: rs12708716-G); (p-value= 0.0000000000007).This variant is associated with Type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740754
}}

{{PMID Auto
|PMID=19951419
|Title=Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
|OA=1
}}

{{PharmGKB
|RSID=rs12708716
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: (see Todd 2007); Risk Allele: rs12708716-A). This variant is associated with type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356641
}}

{{PharmGKB
|RSID=rs12708716
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17554260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: 4,000 cases, 5,000 controls, 2,997 trios; Risk Allele: rs12708716-A).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356630
}}

{{PharmGKB
|RSID=rs12708716
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17554300
|Annotation=A genome-wide association study in 2,000 individuals for each of 7 major diseases and a shared set of 3,000 controls found an association of this SNP with type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 1
|Curation Level=Curated
|PharmGKB Accession ID=PA162355909
}}

{{PMID Auto GWAS
|PMID=21829393
|Trait=None
|Title=Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|RiskAllele=G
|Pval=5E-14
|OR=1.2000
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=18252225
|Title=On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
|OA=1
}}

{{PMID Auto
|PMID=18423522
|Title=Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
|OA=1
}}

{{PMID Auto
|PMID=18533027
|Title=Worldwide population differentiation at disease-associated SNPs.
|OA=1
}}

{{PMID Auto
|PMID=18556337
|Title=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).
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19073967
|Title=Shared and distinct genetic variants in type 1 diabetes and celiac disease.
|OA=1
}}

{{PMID Auto
|PMID=19140132
|Title=Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
|OA=1
}}

{{PMID Auto
|PMID=19359276
|Title=Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
|OA=1
}}

{{PMID Auto
|PMID=19639606
|Title=Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
|OA=1
}}

{{PMID Auto
|PMID=19838195
|Title=A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=20182566
|Title=The genetic aspects of multiple sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20405052
|Title=The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
|OA=1
}}

{{PMID Auto
|PMID=21179112
|Title=Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12708716
|overall_frequency_n=46
|overall_frequency_d=128
|overall_frequency=0.359375
|n_genomes=32
|n_genomes_annotated=0
|n_haplomes=39
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23151489
|Title=Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}