Rs12708716

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Orientationplus
is asnp
is mentioned by
dbSNPrs12708716
PheGenIrs12708716
nextbiors12708716
hapmaprs12708716
1000 genomesrs12708716
hgdprs12708716
ensemblrs12708716
gopubmedrs12708716
geneviewrs12708716
scholarrs12708716
googlers12708716
pharmgkbrs12708716
gwascentralrs12708716
openSNPrs12708716
23andMers12708716
23andMe allrs12708716
SNP Nexus

SNPshotrs12708716
SNPdbers12708716
MSV3drs12708716
GeneCLEC16A
Chromosome16
Orientationplus
GMAF0.3283
Position11179873
ReferenceGRCh37 37.1/131
Max Magnitude0
Geno Mag Summary
(A;A) 1.6x risk
(A;G) 1.2x risk
(G;G) 0 normal
? (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
OMIM222100
DescDIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Relatedalso
OMIM611303
DescC-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
Variant
Relatedalso

[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
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