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rs12708716

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome16
Position11086016
GeneCLEC16A
is asnp
is mentioned by
dbSNPrs12708716
dbSNP (classic)rs12708716
ClinGenrs12708716
ebirs12708716
HLIrs12708716
Exacrs12708716
Gnomadrs12708716
Varsomers12708716
LitVarrs12708716
Maprs12708716
PheGenIrs12708716
Biobankrs12708716
1000 genomesrs12708716
hgdprs12708716
ensemblrs12708716
geneviewrs12708716
scholarrs12708716
googlers12708716
pharmgkbrs12708716
gwascentralrs12708716
openSNPrs12708716
23andMers12708716
SNPshotrs12708716
SNPdbers12708716
MSV3drs12708716
GWAS Ctlgrs12708716
GMAF0.3283
Max Magnitude0
? (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 17554300OA-icon.png]

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 17554260OA-icon.png]

[PMID 18987646OA-icon.png] 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 17554260OA-icon.png]
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 18978792OA-icon.png]
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 19430480OA-icon.png]
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

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GWAS snp
PMID [PMID 21829393OA-icon.png]
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]


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[PMID 20182566OA-icon.png] The genetic aspects of multiple sclerosis.


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[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