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rs4506565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;T) 1.5 1.4x increased risk for type-2 diabetes
(T;T) 2 1.9x increased risk for type-2 diabetes
ReferenceGRCh38 38.1/142
Chromosome10
Position112996282
GeneTCF7L2
is asnp
is mentioned by
dbSNPrs4506565
ebirs4506565
HLIrs4506565
Exacrs4506565
Varsomers4506565
Maprs4506565
PheGenIrs4506565
hapmaprs4506565
1000 genomesrs4506565
hgdprs4506565
ensemblrs4506565
gopubmedrs4506565
geneviewrs4506565
scholarrs4506565
googlers4506565
pharmgkbrs4506565
gwascentralrs4506565
openSNPrs4506565
23andMers4506565
23andMe allrs4506565
SNP Nexus

SNPshotrs4506565
SNPdbers4506565
MSV3drs4506565
GWAS Ctlgrs4506565
GMAF0.2681
Max Magnitude2
? (A;A) (A;T) (T;T) 28
rs4506565 has been reported in a large study to be associated with type-2 diabetes.

The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 1.36 (CI 1.2-1.54), and for homozygotes, 1.88 (CI 1.56-2.27). [PMID 17554300OA-icon.png]

Note: this is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs7903146. They have approximately equal power to estimate risk for type-2 diabetes, and the results from one correlate 92% of the time with the other. [PMID 17554300OA-icon.png]

OMIM125853
DescDIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Variant
Relatedalso
[PMID 20018066OA-icon.png] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study
GWAS snp
PMID [PMID 20081858OA-icon.png]
Trait Fasting glucose-related traits
Title New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Risk Allele T
P-val 1E-8
Odds Ratio None None


[PMID 20597906] A Validation Study of Type 2 Diabetes-related Variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ Genes in one Endogamous Ethnic Group of North India



[PMID 22402060OA-icon.png] Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes


[PMID 16936215] Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk.


[PMID 17093941] Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population.


[PMID 17934151] A variant of the transcription factor 7-like 2 (TCF7L2) gene and the risk of posttransplantation diabetes mellitus in renal allograft recipients.


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18655717OA-icon.png] Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.


[PMID 19053027] Loci of TCF7L2, HHEX and IDE on chromosome 10q and the susceptibility of their genetic polymorphisms to type 2 diabetes.


[PMID 19161620OA-icon.png] An open access database of genome-wide association results.


[PMID 19252133OA-icon.png] Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.


[PMID 19351735OA-icon.png] Evidence for association between polycystic ovary syndrome (PCOS) and TCF7L2 and glucose intolerance in women with PCOS and TCF7L2.


[PMID 19913122OA-icon.png] ATRIUM: testing untyped SNPs in case-control association studies with related individuals.


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


[PMID 22583123OA-icon.png] Association of TCF7L2 and ADIPOQ with Body Mass Index, Waist-Hip Ratio, and Systolic Blood Pressure in an Endogamous Ethnic Group of India.


GET Evidence
rs4506565
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.296875
summary



[PMID 23188737] TCF7L2 gene polymorphisms and type 2 diabetes risk: a comprehensive and updated meta-analysis involving 121,174 subjects


[PMID 24128935OA-icon.png] Impact of TCF7L2 single nucleotide polymorphisms on hydrochlorothiazide-induced diabetes


[PMID 24157263] Polymorphisms of Transcription Factor-7-Like 2 (TCF7L2) gene in Tunisian women with polycystic ovaries syndrome (PCOS)


[PMID 23107111] Transcription factor-7-like 2 gene variants are strongly associated with type 2 diabetes in Lebanese subjects.


[PMID 23142382] Transcription factor-7-like 2 gene variants are strongly associated with type 2 diabetes in Tunisian Arab subjects.


[PMID 27383215] Type 2 Diabetes Risk Allele Loci in the Qatari Population.