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rs9465871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.2x risk type-2 diabetes
(C;T) 1.2x risk type-2 diabetes
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position20717024
GeneCDKAL1
is asnp
is mentioned by
dbSNPrs9465871
ebirs9465871
HLIrs9465871
Exacrs9465871
Varsomers9465871
Maprs9465871
PheGenIrs9465871
hapmaprs9465871
1000 genomesrs9465871
hgdprs9465871
ensemblrs9465871
gopubmedrs9465871
geneviewrs9465871
scholarrs9465871
googlers9465871
pharmgkbrs9465871
gwascentralrs9465871
openSNPrs9465871
23andMers9465871
23andMe allrs9465871
SNP Nexus

SNPshotrs9465871
SNPdbers9465871
MSV3drs9465871
GWAS Ctlgrs9465871
GMAF0.3627
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs9465871 has been reported in a large study to be associated with type-2 diabetes.

The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.18 (CI 1.04-1.34), and for homozygotes, 2.17 (CI 1.6-2.95). [PMID 17554300OA-icon.png]

[PMID 18633108OA-icon.png] When combined, each additional risk allele from rs9465871, rs10811661, rs4402960, and rs13266634 increased the risk for type 2 diabetes by 1.24-fold (P = 2.85 x 10(-7)) or for combined IFG/type 2 diabetes by 1.21-fold (P = 6.31 x 10(-11)) in Chinese Hans

GWAS
SNP rs9465871
PubMedID [PMID 17554300OA-icon.png]
Condition Type 2 diabetes
Gene CDKAL1
Risk Allele C
pValue 3.00E-007
OR 1.18
95% CI 1.04-1.34


OMIM125853
DescDIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Variant
Relatedalso
[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.

[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.

[PMID 20847106] Association of a cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) polymorphism with elevated hemoglobin A(1)(c) levels and the prevalence of metabolic syndrome in Japanese men: interaction with dietary energy intake.

[PMID 21368910OA-icon.png] Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.


GET Evidence
rs9465871
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.429688
summary