{{Rsnum
|rsid=4506565
|Gene=TCF7L2
|Chromosome=10
|position=114756041
|Orientation=plus
|GMAF=0.2681
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 53.1 | 34.5 | 12.4
| HCB | 94.9 | 5.1 | 0.0
| JPT | 93.8 | 5.3 | 0.9
| YRI | 27.9 | 53.1 | 19.0
| ASW | 26.3 | 49.1 | 24.6
| CHB | 94.9 | 5.1 | 0.0
| CHD | 92.7 | 7.3 | 0.0
| GIH | 48.0 | 45.0 | 7.0
| LWK | 24.5 | 52.7 | 22.7
| MEX | 53.4 | 36.2 | 10.3
| MKK | 38.5 | 44.9 | 16.7
| TSI | 43.1 | 41.2 | 15.7
| HapMapRevision=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|17554300|OA=1
}}

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|17554300|OA=1
}}

{{omim
|desc=DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
|id=125853
|rsnum=4506565
}}

{{PharmGKB
|RSID=rs4506565
|Name_s=
|Gene_s=TCF7L2
|Feature=
|Evidence=PubMed ID:20081858
|Annotation=Phenotype: In a meta-analysis of 21 GWAS cohorts, this SNP was found to be associated with fasting glucose level. Study size: 46,181. Significance metric(s): p = 1.2 x 10(-8). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA165281948
}}
{{PMID Auto
|PMID=20018066
|Title=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
|OA=1
}}

{{PMID Auto GWAS
|PMID=20081858
|Trait=Fasting glucose-related traits
|Title=New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
|RiskAllele=T
|Pval=1E-8
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=20597906
|Title=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
}}

{{PharmGKB
|RSID=rs4506565
|Name_s=
|Gene_s=TCF7L2
|Feature=
|Evidence=PubMed ID:17554300
|Annotation=This variant has been reported to be significantly associated with type 2 diabetes in several studies.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA161749010
}}

{{PMID Auto
|PMID=22402060
|Title=Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=16936215
|Title=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 Auto
|PMID=17093941
|Title=Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population.
}}

{{PMID Auto
|PMID=17934151
|Title=A variant of the transcription factor 7-like 2 (TCF7L2) gene and the risk of posttransplantation diabetes mellitus in renal allograft recipients.
}}

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

{{PMID Auto
|PMID=18655717
|Title=Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.
|OA=1
}}

{{PMID Auto
|PMID=19053027
|Title=Loci of TCF7L2, HHEX and IDE on chromosome 10q and the susceptibility of their genetic polymorphisms to type 2 diabetes.
}}

{{PMID Auto
|PMID=19161620
|Title=An open access database of genome-wide association results.
|OA=1
}}

{{PMID Auto
|PMID=19252133
|Title=Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.
|OA=1
}}

{{PMID Auto
|PMID=19351735
|Title=Evidence for association between polycystic ovary syndrome (PCOS) and TCF7L2 and glucose intolerance in women with PCOS and TCF7L2.
|OA=1
}}

{{PMID Auto
|PMID=19913122
|Title=ATRIUM: testing untyped SNPs in case-control association studies with related individuals.
|OA=1
}}

{{PMID Auto
|PMID=19931040
|Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=22583123
|Title=Association of TCF7L2 and ADIPOQ with Body Mass Index, Waist-Hip Ratio, and Systolic Blood Pressure in an Endogamous Ethnic Group of India.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4506565
|overall_frequency_n=38
|overall_frequency_d=128
|overall_frequency=0.296875
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=2
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23188737
|Title=TCF7L2 gene polymorphisms and type 2 diabetes risk: a comprehensive and updated meta-analysis involving 121,174 subjects
}}

{{PMID Auto
|PMID=24128935
|Title=Impact of TCF7L2 single nucleotide polymorphisms on hydrochlorothiazide-induced diabetes
}}

{{PMID Auto
|PMID=24157263
|Title=Polymorphisms of Transcription Factor-7-Like 2 (TCF7L2) gene in Tunisian women with polycystic ovaries syndrome (PCOS)
}}

{{PMID Auto
|PMID=23107111
|Title=Transcription factor-7-like 2 gene variants are strongly associated with type 2 diabetes in Lebanese subjects.
}}

{{PMID Auto
|PMID=23142382
|Title=Transcription factor-7-like 2 gene variants are strongly associated with type 2 diabetes in Tunisian Arab subjects.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}